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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: 2-60461136-G-GCCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=60461136&ref=G&alt=GCCA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 60461136,
"ref": "G",
"alt": "GCCA",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000642384.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1775_1776insTGG",
"hgvs_p": "p.Gly592dup",
"transcript": "NM_022893.4",
"protein_id": "NP_075044.2",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 835,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": "ENST00000642384.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1775_1776insTGG",
"hgvs_p": "p.Gly592dup",
"transcript": "ENST00000642384.2",
"protein_id": "ENSP00000496168.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 835,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": "NM_022893.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1673_1674insTGG",
"hgvs_p": "p.Gly558dup",
"transcript": "ENST00000335712.11",
"protein_id": "ENSP00000338774.7",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 801,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 5519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1673_1674insTGG",
"hgvs_p": "p.Gly558dup",
"transcript": "ENST00000358510.6",
"protein_id": "ENSP00000351307.5",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 793,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1775_1776insTGG",
"hgvs_p": "p.Gly592dup",
"transcript": "ENST00000356842.9",
"protein_id": "ENSP00000349300.4",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 773,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2076,
"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+1145_630+1146insTGG",
"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": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1775_1776insTGG",
"hgvs_p": "p.Gly592dup",
"transcript": "NM_001405708.1",
"protein_id": "NP_001392637.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 835,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1775_1776insTGG",
"hgvs_p": "p.Gly592dup",
"transcript": "NM_001405709.1",
"protein_id": "NP_001392638.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 835,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 5888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1775_1776insTGG",
"hgvs_p": "p.Gly592dup",
"transcript": "NM_001405710.1",
"protein_id": "NP_001392639.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 827,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1673_1674insTGG",
"hgvs_p": "p.Gly558dup",
"transcript": "NM_001365609.1",
"protein_id": "NP_001352538.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 801,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 5844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1673_1674insTGG",
"hgvs_p": "p.Gly558dup",
"transcript": "NM_001405711.1",
"protein_id": "NP_001392640.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 801,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 5786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1673_1674insTGG",
"hgvs_p": "p.Gly558dup",
"transcript": "NM_001405712.1",
"protein_id": "NP_001392641.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 801,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1673_1674insTGG",
"hgvs_p": "p.Gly558dup",
"transcript": "NM_001363864.1",
"protein_id": "NP_001350793.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 793,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1619_1620insTGG",
"hgvs_p": "p.Gly540dup",
"transcript": "NM_001405713.1",
"protein_id": "NP_001392642.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 783,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 5880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1619_1620insTGG",
"hgvs_p": "p.Gly540dup",
"transcript": "NM_001405714.1",
"protein_id": "NP_001392643.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 783,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1619_1620insTGG",
"hgvs_p": "p.Gly540dup",
"transcript": "NM_001405715.1",
"protein_id": "NP_001392644.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 783,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1619_1620insTGG",
"hgvs_p": "p.Gly540dup",
"transcript": "NM_001405716.1",
"protein_id": "NP_001392645.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 775,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1775_1776insTGG",
"hgvs_p": "p.Gly592dup",
"transcript": "NM_018014.4",
"protein_id": "NP_060484.2",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 773,
"cds_start": 1775,
"cds_end": null,
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"cdna_start": 2159,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1517_1518insTGG",
"hgvs_p": "p.Gly506dup",
"transcript": "NM_001405717.1",
"protein_id": "NP_001392646.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 749,
"cds_start": 1517,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1658,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1517_1518insTGG",
"hgvs_p": "p.Gly506dup",
"transcript": "NM_001405718.1",
"protein_id": "NP_001392647.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
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"cds_start": 1517,
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"cdna_start": 1658,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1673_1674insTGG",
"hgvs_p": "p.Gly558dup",
"transcript": "NM_001405719.1",
"protein_id": "NP_001392648.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 739,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.1442_1443insTGG",
"hgvs_p": "p.Gly481dup",
"transcript": "NM_001405720.1",
"protein_id": "NP_001392649.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 724,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 5795,
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}
],
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"dbsnp": "rs886037867",
"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,
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"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": 4.237,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000642384.2",
"gene_symbol": "BCL11A",
"hgnc_id": 13221,
"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Gly592dup"
}
],
"clinvar_disease": "Dias-Logan syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Dias-Logan syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}