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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: 3-78600235-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=78600235&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 78600235,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002941.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4819A>G",
"hgvs_p": "p.Met1607Val",
"transcript": "NM_002941.4",
"protein_id": "NP_002932.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4819,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5116,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "ENST00000464233.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4819A>G",
"hgvs_p": "p.Met1607Val",
"transcript": "ENST00000464233.6",
"protein_id": "ENSP00000420321.1",
"transcript_support_level": 5,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4819,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5116,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "NM_002941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4684A>G",
"hgvs_p": "p.Met1562Val",
"transcript": "ENST00000495273.5",
"protein_id": "ENSP00000420637.1",
"transcript_support_level": 1,
"aa_start": 1562,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4684,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 5238,
"cdna_end": null,
"cdna_length": 5600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4519A>G",
"hgvs_p": "p.Met1507Val",
"transcript": "ENST00000467549.5",
"protein_id": "ENSP00000417992.1",
"transcript_support_level": 1,
"aa_start": 1507,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4519,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 4602,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4684A>G",
"hgvs_p": "p.Met1562Val",
"transcript": "NM_133631.4",
"protein_id": "NP_598334.2",
"transcript_support_level": null,
"aa_start": 1562,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4684,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 5682,
"cdna_end": null,
"cdna_length": 7493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4519A>G",
"hgvs_p": "p.Met1507Val",
"transcript": "NM_001145845.2",
"protein_id": "NP_001139317.1",
"transcript_support_level": null,
"aa_start": 1507,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4519,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 5517,
"cdna_end": null,
"cdna_length": 7328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4459A>G",
"hgvs_p": "p.Met1487Val",
"transcript": "ENST00000436010.6",
"protein_id": "ENSP00000406043.3",
"transcript_support_level": 5,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1531,
"cds_start": 4459,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 5697,
"cdna_end": null,
"cdna_length": 7501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4441A>G",
"hgvs_p": "p.Met1481Val",
"transcript": "ENST00000618846.4",
"protein_id": "ENSP00000482448.1",
"transcript_support_level": 5,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4441,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 5679,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4828A>G",
"hgvs_p": "p.Met1610Val",
"transcript": "XM_011533976.1",
"protein_id": "XP_011532278.1",
"transcript_support_level": null,
"aa_start": 1610,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4828,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5125,
"cdna_end": null,
"cdna_length": 6936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4828A>G",
"hgvs_p": "p.Met1610Val",
"transcript": "XM_011533977.3",
"protein_id": "XP_011532279.1",
"transcript_support_level": null,
"aa_start": 1610,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4828,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5416,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4801A>G",
"hgvs_p": "p.Met1601Val",
"transcript": "XM_011533978.1",
"protein_id": "XP_011532280.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4801,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 5098,
"cdna_end": null,
"cdna_length": 6909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4792A>G",
"hgvs_p": "p.Met1598Val",
"transcript": "XM_047448661.1",
"protein_id": "XP_047304617.1",
"transcript_support_level": null,
"aa_start": 1598,
"aa_end": null,
"aa_length": 1642,
"cds_start": 4792,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 5089,
"cdna_end": null,
"cdna_length": 6900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4744A>G",
"hgvs_p": "p.Met1582Val",
"transcript": "XM_017006982.2",
"protein_id": "XP_016862471.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1626,
"cds_start": 4744,
"cds_end": null,
"cds_length": 4881,
"cdna_start": 5041,
"cdna_end": null,
"cdna_length": 6852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4711A>G",
"hgvs_p": "p.Met1571Val",
"transcript": "XM_006713277.4",
"protein_id": "XP_006713340.1",
"transcript_support_level": null,
"aa_start": 1571,
"aa_end": null,
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"cds_start": 4711,
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"cdna_start": 5709,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4705A>G",
"hgvs_p": "p.Met1569Val",
"transcript": "XM_047448662.1",
"protein_id": "XP_047304618.1",
"transcript_support_level": null,
"aa_start": 1569,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4705,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4723,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4702A>G",
"hgvs_p": "p.Met1568Val",
"transcript": "XM_017006983.3",
"protein_id": "XP_016862472.1",
"transcript_support_level": null,
"aa_start": 1568,
"aa_end": null,
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"cds_start": 4702,
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"cdna_start": 5700,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4675A>G",
"hgvs_p": "p.Met1559Val",
"transcript": "XM_047448663.1",
"protein_id": "XP_047304619.1",
"transcript_support_level": null,
"aa_start": 1559,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4675,
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"cds_length": 4812,
"cdna_start": 5673,
"cdna_end": null,
"cdna_length": 7484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4663A>G",
"hgvs_p": "p.Met1555Val",
"transcript": "XM_011533979.1",
"protein_id": "XP_011532281.1",
"transcript_support_level": null,
"aa_start": 1555,
"aa_end": null,
"aa_length": 1599,
"cds_start": 4663,
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"cdna_start": 4960,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4654A>G",
"hgvs_p": "p.Met1552Val",
"transcript": "XM_017006984.1",
"protein_id": "XP_016862473.1",
"transcript_support_level": null,
"aa_start": 1552,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4636A>G",
"hgvs_p": "p.Met1546Val",
"transcript": "XM_011533980.1",
"protein_id": "XP_011532282.1",
"transcript_support_level": null,
"aa_start": 1546,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4636,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4627A>G",
"hgvs_p": "p.Met1543Val",
"transcript": "XM_047448664.1",
"protein_id": "XP_047304620.1",
"transcript_support_level": null,
"aa_start": 1543,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4627,
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"cds_length": 4764,
"cdna_start": 4924,
"cdna_end": null,
"cdna_length": 6735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4510A>G",
"hgvs_p": "p.Met1504Val",
"transcript": "XM_047448665.1",
"protein_id": "XP_047304621.1",
"transcript_support_level": null,
"aa_start": 1504,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4510,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 5508,
"cdna_end": null,
"cdna_length": 7319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
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"hgvs_c": "c.4471A>G",
"hgvs_p": "p.Met1491Val",
"transcript": "XM_017006985.2",
"protein_id": "XP_016862474.1",
"transcript_support_level": null,
"aa_start": 1491,
"aa_end": null,
"aa_length": 1535,
"cds_start": 4471,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 4706,
"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.428A>G",
"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": "rs369936880",
"frequency_reference_population": 0.000016735012,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000130034,
"gnomad_genomes_af": 0.0000525521,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18427923321723938,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.1214,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.692,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_002941.4",
"gene_symbol": "ROBO1",
"hgnc_id": 10249,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4819A>G",
"hgvs_p": "p.Met1607Val"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}