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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: 2-60460824-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=60460824&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 60460824,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022893.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.2088T>G",
"hgvs_p": "p.Ser696Arg",
"transcript": "NM_022893.4",
"protein_id": "NP_075044.2",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 835,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": "ENST00000642384.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.2088T>G",
"hgvs_p": "p.Ser696Arg",
"transcript": "ENST00000642384.2",
"protein_id": "ENSP00000496168.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 835,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": "NM_022893.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1986T>G",
"hgvs_p": "p.Ser662Arg",
"transcript": "ENST00000335712.11",
"protein_id": "ENSP00000338774.7",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 801,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2374,
"cdna_end": null,
"cdna_length": 5519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1986T>G",
"hgvs_p": "p.Ser662Arg",
"transcript": "ENST00000358510.6",
"protein_id": "ENSP00000351307.5",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 793,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.2088T>G",
"hgvs_p": "p.Ser696Arg",
"transcript": "ENST00000356842.9",
"protein_id": "ENSP00000349300.4",
"transcript_support_level": 1,
"aa_start": 696,
"aa_end": null,
"aa_length": 773,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.630+1458T>G",
"hgvs_p": null,
"transcript": "ENST00000359629.10",
"protein_id": "ENSP00000352648.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": -4,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.2088T>G",
"hgvs_p": "p.Ser696Arg",
"transcript": "NM_001405708.1",
"protein_id": "NP_001392637.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 835,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.2088T>G",
"hgvs_p": "p.Ser696Arg",
"transcript": "NM_001405709.1",
"protein_id": "NP_001392638.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 835,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 5888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.2088T>G",
"hgvs_p": "p.Ser696Arg",
"transcript": "NM_001405710.1",
"protein_id": "NP_001392639.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 827,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1986T>G",
"hgvs_p": "p.Ser662Arg",
"transcript": "NM_001365609.1",
"protein_id": "NP_001352538.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 801,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 5844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1986T>G",
"hgvs_p": "p.Ser662Arg",
"transcript": "NM_001405711.1",
"protein_id": "NP_001392640.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 801,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 5786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1986T>G",
"hgvs_p": "p.Ser662Arg",
"transcript": "NM_001405712.1",
"protein_id": "NP_001392641.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 801,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1986T>G",
"hgvs_p": "p.Ser662Arg",
"transcript": "NM_001363864.1",
"protein_id": "NP_001350793.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 793,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1932T>G",
"hgvs_p": "p.Ser644Arg",
"transcript": "NM_001405713.1",
"protein_id": "NP_001392642.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
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"cds_start": 1932,
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"cdna_start": 2250,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1932T>G",
"hgvs_p": "p.Ser644Arg",
"transcript": "NM_001405714.1",
"protein_id": "NP_001392643.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 783,
"cds_start": 1932,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1932T>G",
"hgvs_p": "p.Ser644Arg",
"transcript": "NM_001405715.1",
"protein_id": "NP_001392644.1",
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"aa_start": 644,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1932T>G",
"hgvs_p": "p.Ser644Arg",
"transcript": "NM_001405716.1",
"protein_id": "NP_001392645.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 775,
"cds_start": 1932,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.2088T>G",
"hgvs_p": "p.Ser696Arg",
"transcript": "NM_018014.4",
"protein_id": "NP_060484.2",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 773,
"cds_start": 2088,
"cds_end": null,
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"cdna_start": 2472,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1830T>G",
"hgvs_p": "p.Ser610Arg",
"transcript": "NM_001405717.1",
"protein_id": "NP_001392646.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 749,
"cds_start": 1830,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1830T>G",
"hgvs_p": "p.Ser610Arg",
"transcript": "NM_001405718.1",
"protein_id": "NP_001392647.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
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"cds_start": 1830,
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"cdna_start": 1971,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1986T>G",
"hgvs_p": "p.Ser662Arg",
"transcript": "NM_001405719.1",
"protein_id": "NP_001392648.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 739,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1755T>G",
"hgvs_p": "p.Ser585Arg",
"transcript": "NM_001405720.1",
"protein_id": "NP_001392649.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 724,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 5795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.1755T>G",
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}