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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: 3-78600169-CTGCAATATTTCTTCGACCTACATT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=78600169&ref=CTGCAATATTTCTTCGACCTACATT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 78600169,
"ref": "CTGCAATATTTCTTCGACCTACATT",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "NM_002941.4",
"consequences": [
{
"aa_ref": "NVGRRNIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.4861_4884delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1621_Ala1628del",
"transcript": "NM_002941.4",
"protein_id": "NP_002932.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4861,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5181,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "ENST00000464233.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NVGRRNIA",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.4861_4884delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1621_Ala1628del",
"transcript": "ENST00000464233.6",
"protein_id": "ENSP00000420321.1",
"transcript_support_level": 5,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4861,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5181,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "NM_002941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NVGRRNIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.4726_4749delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1576_Ala1583del",
"transcript": "ENST00000495273.5",
"protein_id": "ENSP00000420637.1",
"transcript_support_level": 1,
"aa_start": 1576,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4726,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 5303,
"cdna_end": null,
"cdna_length": 5600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NVGRRNIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.4561_4584delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1521_Ala1528del",
"transcript": "ENST00000467549.5",
"protein_id": "ENSP00000417992.1",
"transcript_support_level": 1,
"aa_start": 1521,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4561,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 4667,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NVGRRNIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.4726_4749delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1576_Ala1583del",
"transcript": "NM_133631.4",
"protein_id": "NP_598334.2",
"transcript_support_level": null,
"aa_start": 1576,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4726,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 5747,
"cdna_end": null,
"cdna_length": 7493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NVGRRNIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.4561_4584delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1521_Ala1528del",
"transcript": "NM_001145845.2",
"protein_id": "NP_001139317.1",
"transcript_support_level": null,
"aa_start": 1521,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4561,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 5582,
"cdna_end": null,
"cdna_length": 7328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NVGRRNIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.4501_4524delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1501_Ala1508del",
"transcript": "ENST00000436010.6",
"protein_id": "ENSP00000406043.3",
"transcript_support_level": 5,
"aa_start": 1501,
"aa_end": null,
"aa_length": 1531,
"cds_start": 4501,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 5762,
"cdna_end": null,
"cdna_length": 7501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NVGRRNIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.4483_4506delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1495_Ala1502del",
"transcript": "ENST00000618846.4",
"protein_id": "ENSP00000482448.1",
"transcript_support_level": 5,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4483,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 5744,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NVGRRNIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.4870_4893delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1624_Ala1631del",
"transcript": "XM_011533976.1",
"protein_id": "XP_011532278.1",
"transcript_support_level": null,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4870,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5190,
"cdna_end": null,
"cdna_length": 6936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NVGRRNIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.4870_4893delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1624_Ala1631del",
"transcript": "XM_011533977.3",
"protein_id": "XP_011532279.1",
"transcript_support_level": null,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4870,
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"cdna_start": 5481,
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"cdna_length": 7227,
"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": 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.4843_4866delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1615_Ala1622del",
"transcript": "XM_011533978.1",
"protein_id": "XP_011532280.1",
"transcript_support_level": null,
"aa_start": 1615,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4843,
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"cdna_start": 5163,
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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": [
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],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4834_4857delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1612_Ala1619del",
"transcript": "XM_047448661.1",
"protein_id": "XP_047304617.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1642,
"cds_start": 4834,
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"cdna_start": 5154,
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4786_4809delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1596_Ala1603del",
"transcript": "XM_017006982.2",
"protein_id": "XP_016862471.1",
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},
{
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],
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"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4753_4776delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1585_Ala1592del",
"transcript": "XM_006713277.4",
"protein_id": "XP_006713340.1",
"transcript_support_level": null,
"aa_start": 1585,
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"cds_start": 4753,
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},
{
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"consequences": [
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],
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"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4747_4770delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1583_Ala1590del",
"transcript": "XM_047448662.1",
"protein_id": "XP_047304618.1",
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},
{
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],
"exon_rank": 28,
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"intron_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4744_4767delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1582_Ala1589del",
"transcript": "XM_017006983.3",
"protein_id": "XP_016862472.1",
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},
{
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"consequences": [
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],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4717_4740delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1573_Ala1580del",
"transcript": "XM_047448663.1",
"protein_id": "XP_047304619.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4705_4728delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1569_Ala1576del",
"transcript": "XM_011533979.1",
"protein_id": "XP_011532281.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4696_4719delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1566_Ala1573del",
"transcript": "XM_017006984.1",
"protein_id": "XP_016862473.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 30,
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"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4678_4701delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1560_Ala1567del",
"transcript": "XM_011533980.1",
"protein_id": "XP_011532282.1",
"transcript_support_level": null,
"aa_start": 1560,
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},
{
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"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.4669_4692delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1557_Ala1564del",
"transcript": "XM_047448664.1",
"protein_id": "XP_047304620.1",
"transcript_support_level": null,
"aa_start": 1557,
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"cdna_start": 4989,
"cdna_end": null,
"cdna_length": 6735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NVGRRNIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.4552_4575delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1518_Ala1525del",
"transcript": "XM_047448665.1",
"protein_id": "XP_047304621.1",
"transcript_support_level": null,
"aa_start": 1518,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4552,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 5573,
"cdna_end": null,
"cdna_length": 7319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NVGRRNIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"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.4513_4536delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1505_Ala1512del",
"transcript": "XM_017006985.2",
"protein_id": "XP_016862474.1",
"transcript_support_level": null,
"aa_start": 1505,
"aa_end": null,
"aa_length": 1535,
"cds_start": 4513,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 4771,
"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.470_493delAATGTAGGTCGAAGAAATATTGCA",
"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": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": 7.91,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002941.4",
"gene_symbol": "ROBO1",
"hgnc_id": 10249,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4861_4884delAATGTAGGTCGAAGAAATATTGCA",
"hgvs_p": "p.Asn1621_Ala1628del"
}
],
"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
}