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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-78600118-A-ATTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=78600118&ref=A&alt=ATTC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 78600118,
"ref": "A",
"alt": "ATTC",
"effect": "conservative_inframe_insertion",
"transcript": "NM_002941.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4933_4935dupGAA",
"hgvs_p": "p.Glu1645dup",
"transcript": "NM_002941.4",
"protein_id": "NP_002932.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4935,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5232,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "ENST00000464233.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4933_4935dupGAA",
"hgvs_p": "p.Glu1645dup",
"transcript": "ENST00000464233.6",
"protein_id": "ENSP00000420321.1",
"transcript_support_level": 5,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4935,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5232,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "NM_002941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4798_4800dupGAA",
"hgvs_p": "p.Glu1600dup",
"transcript": "ENST00000495273.5",
"protein_id": "ENSP00000420637.1",
"transcript_support_level": 1,
"aa_start": 1600,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4800,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 5354,
"cdna_end": null,
"cdna_length": 5600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4633_4635dupGAA",
"hgvs_p": "p.Glu1545dup",
"transcript": "ENST00000467549.5",
"protein_id": "ENSP00000417992.1",
"transcript_support_level": 1,
"aa_start": 1545,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4635,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 4718,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4798_4800dupGAA",
"hgvs_p": "p.Glu1600dup",
"transcript": "NM_133631.4",
"protein_id": "NP_598334.2",
"transcript_support_level": null,
"aa_start": 1600,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4800,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 5798,
"cdna_end": null,
"cdna_length": 7493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4633_4635dupGAA",
"hgvs_p": "p.Glu1545dup",
"transcript": "NM_001145845.2",
"protein_id": "NP_001139317.1",
"transcript_support_level": null,
"aa_start": 1545,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4635,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 5633,
"cdna_end": null,
"cdna_length": 7328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4573_4575dupGAA",
"hgvs_p": "p.Glu1525dup",
"transcript": "ENST00000436010.6",
"protein_id": "ENSP00000406043.3",
"transcript_support_level": 5,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1531,
"cds_start": 4575,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 5813,
"cdna_end": null,
"cdna_length": 7501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4555_4557dupGAA",
"hgvs_p": "p.Glu1519dup",
"transcript": "ENST00000618846.4",
"protein_id": "ENSP00000482448.1",
"transcript_support_level": 5,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4557,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 5795,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4942_4944dupGAA",
"hgvs_p": "p.Glu1648dup",
"transcript": "XM_011533976.1",
"protein_id": "XP_011532278.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4944,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5241,
"cdna_end": null,
"cdna_length": 6936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4942_4944dupGAA",
"hgvs_p": "p.Glu1648dup",
"transcript": "XM_011533977.3",
"protein_id": "XP_011532279.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4944,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5532,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4915_4917dupGAA",
"hgvs_p": "p.Glu1639dup",
"transcript": "XM_011533978.1",
"protein_id": "XP_011532280.1",
"transcript_support_level": null,
"aa_start": 1639,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4917,
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"cds_length": 4938,
"cdna_start": 5214,
"cdna_end": null,
"cdna_length": 6909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4906_4908dupGAA",
"hgvs_p": "p.Glu1636dup",
"transcript": "XM_047448661.1",
"protein_id": "XP_047304617.1",
"transcript_support_level": null,
"aa_start": 1636,
"aa_end": null,
"aa_length": 1642,
"cds_start": 4908,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 5205,
"cdna_end": null,
"cdna_length": 6900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4858_4860dupGAA",
"hgvs_p": "p.Glu1620dup",
"transcript": "XM_017006982.2",
"protein_id": "XP_016862471.1",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1626,
"cds_start": 4860,
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"cds_length": 4881,
"cdna_start": 5157,
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"cdna_length": 6852,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 29,
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"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4825_4827dupGAA",
"hgvs_p": "p.Glu1609dup",
"transcript": "XM_006713277.4",
"protein_id": "XP_006713340.1",
"transcript_support_level": null,
"aa_start": 1609,
"aa_end": null,
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"cds_start": 4827,
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"cdna_start": 5825,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4819_4821dupGAA",
"hgvs_p": "p.Glu1607dup",
"transcript": "XM_047448662.1",
"protein_id": "XP_047304618.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4821,
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"cdna_start": 4839,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4816_4818dupGAA",
"hgvs_p": "p.Glu1606dup",
"transcript": "XM_017006983.3",
"protein_id": "XP_016862472.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1612,
"cds_start": 4818,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4789_4791dupGAA",
"hgvs_p": "p.Glu1597dup",
"transcript": "XM_047448663.1",
"protein_id": "XP_047304619.1",
"transcript_support_level": null,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4791,
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"cds_length": 4812,
"cdna_start": 5789,
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"cdna_length": 7484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4777_4779dupGAA",
"hgvs_p": "p.Glu1593dup",
"transcript": "XM_011533979.1",
"protein_id": "XP_011532281.1",
"transcript_support_level": null,
"aa_start": 1593,
"aa_end": null,
"aa_length": 1599,
"cds_start": 4779,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4768_4770dupGAA",
"hgvs_p": "p.Glu1590dup",
"transcript": "XM_017006984.1",
"protein_id": "XP_016862473.1",
"transcript_support_level": null,
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"cds_start": 4770,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4750_4752dupGAA",
"hgvs_p": "p.Glu1584dup",
"transcript": "XM_011533980.1",
"protein_id": "XP_011532282.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4741_4743dupGAA",
"hgvs_p": "p.Glu1581dup",
"transcript": "XM_047448664.1",
"protein_id": "XP_047304620.1",
"transcript_support_level": null,
"aa_start": 1581,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4743,
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"cdna_start": 5040,
"cdna_end": null,
"cdna_length": 6735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4624_4626dupGAA",
"hgvs_p": "p.Glu1542dup",
"transcript": "XM_047448665.1",
"protein_id": "XP_047304621.1",
"transcript_support_level": null,
"aa_start": 1542,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4626,
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"cds_length": 4647,
"cdna_start": 5624,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4585_4587dupGAA",
"hgvs_p": "p.Glu1529dup",
"transcript": "XM_017006985.2",
"protein_id": "XP_016862474.1",
"transcript_support_level": null,
"aa_start": 1529,
"aa_end": null,
"aa_length": 1535,
"cds_start": 4587,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 4822,
"cdna_end": null,
"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "n.542_544dupGAA",
"hgvs_p": null,
"transcript": "ENST00000466906.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"dbsnp": "rs1301063267",
"frequency_reference_population": 0.000007538274,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000753827,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.116,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002941.4",
"gene_symbol": "ROBO1",
"hgnc_id": 10249,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4933_4935dupGAA",
"hgvs_p": "p.Glu1645dup"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}