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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: 10-114441724-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114441724&ref=G&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "10",
"pos": 114441724,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002313.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1996C>T",
"hgvs_p": "p.Arg666Trp",
"transcript": "NM_002313.7",
"protein_id": "NP_002304.3",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 778,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 7560,
"mane_select": "ENST00000533213.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1996C>T",
"hgvs_p": "p.Arg666Trp",
"transcript": "ENST00000533213.7",
"protein_id": "ENSP00000433629.3",
"transcript_support_level": 5,
"aa_start": 666,
"aa_end": null,
"aa_length": 778,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 7560,
"mane_select": "NM_002313.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.Arg722Trp",
"transcript": "ENST00000649363.1",
"protein_id": "ENSP00000497150.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 834,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Arg636Trp",
"transcript": "NM_001322882.2",
"protein_id": "NP_001309811.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 748,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2556,
"cdna_end": null,
"cdna_length": 8047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Arg636Trp",
"transcript": "ENST00000369256.6",
"protein_id": "ENSP00000358260.3",
"transcript_support_level": 5,
"aa_start": 636,
"aa_end": null,
"aa_length": 748,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2556,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1816C>T",
"hgvs_p": "p.Arg606Trp",
"transcript": "NM_001003407.2",
"protein_id": "NP_001003407.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 718,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 7395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1816C>T",
"hgvs_p": "p.Arg606Trp",
"transcript": "ENST00000392955.8",
"protein_id": "ENSP00000376682.4",
"transcript_support_level": 5,
"aa_start": 606,
"aa_end": null,
"aa_length": 718,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Trp",
"transcript": "NM_001322883.2",
"protein_id": "NP_001309812.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 683,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 7290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1666C>T",
"hgvs_p": "p.Arg556Trp",
"transcript": "NM_001322884.3",
"protein_id": "NP_001309813.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 668,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 7386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1660C>T",
"hgvs_p": "p.Arg554Trp",
"transcript": "NM_001322885.3",
"protein_id": "NP_001309814.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 666,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 7380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Trp",
"transcript": "NM_001352440.1",
"protein_id": "NP_001339369.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 655,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 7598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Trp",
"transcript": "ENST00000651023.2",
"protein_id": "ENSP00000499023.2",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 655,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1802,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542Trp",
"transcript": "NM_001322886.3",
"protein_id": "NP_001309815.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 654,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 7344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1570C>T",
"hgvs_p": "p.Arg524Trp",
"transcript": "NM_001322887.2",
"protein_id": "NP_001309816.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 636,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 7149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"transcript": "NM_001352441.1",
"protein_id": "NP_001339370.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 620,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 7493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"transcript": "ENST00000707119.1",
"protein_id": "ENSP00000516747.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 620,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 7125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1435C>T",
"hgvs_p": "p.Arg479Trp",
"transcript": "NM_001352442.2",
"protein_id": "NP_001339371.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 591,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 7216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "NM_001352443.2",
"protein_id": "NP_001339372.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 464,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 6851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343Trp",
"transcript": "NM_001322888.2",
"protein_id": "NP_001309817.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 455,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 6824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343Trp",
"transcript": "NM_006720.4",
"protein_id": "NP_006711.3",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 455,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 6824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343Trp",
"transcript": "ENST00000392952.7",
"protein_id": "ENSP00000376679.3",
"transcript_support_level": 5,
"aa_start": 343,
"aa_end": null,
"aa_length": 455,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Trp",
"transcript": "NM_001322889.2",
"protein_id": "NP_001309818.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 443,
"cds_start": 991,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 6809,
"mane_select": null,
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"phenotype_combined": "not specified",
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}
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}