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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: 5-149239835-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=149239835&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 149239835,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000309868.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "NM_014945.5",
"protein_id": "NP_055760.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 683,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 4439,
"mane_select": "ENST00000309868.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "ENST00000309868.12",
"protein_id": "ENSP00000310309.7",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 683,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 4439,
"mane_select": "NM_014945.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "ENST00000506113.5",
"protein_id": "ENSP00000425394.1",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 683,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 4569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "ENST00000508983.5",
"protein_id": "ENSP00000420855.1",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 650,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Arg322Leu",
"transcript": "ENST00000504238.5",
"protein_id": "ENSP00000421183.1",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 544,
"cds_start": 965,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253406",
"gene_hgnc_id": null,
"hgvs_c": "n.117-18896C>A",
"hgvs_p": null,
"transcript": "ENST00000523176.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "NM_001301015.3",
"protein_id": "NP_001287944.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 683,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "NM_001301018.3",
"protein_id": "NP_001287947.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 650,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "NM_001370417.1",
"protein_id": "NP_001357346.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 650,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "NM_001345858.2",
"protein_id": "NP_001332787.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 634,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Arg322Leu",
"transcript": "NM_001345859.2",
"protein_id": "NP_001332788.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 588,
"cds_start": 965,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Arg322Leu",
"transcript": "NM_001345861.2",
"protein_id": "NP_001332790.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 588,
"cds_start": 965,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Arg322Leu",
"transcript": "ENST00000326685.11",
"protein_id": "ENSP00000315841.7",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 588,
"cds_start": 965,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Arg322Leu",
"transcript": "NM_001345860.2",
"protein_id": "NP_001332789.1",
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"aa_start": 322,
"aa_end": null,
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"cds_start": 965,
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"cdna_start": 1214,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Arg322Leu",
"transcript": "NM_001370418.1",
"protein_id": "NP_001357347.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 572,
"cds_start": 965,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Arg322Leu",
"transcript": "NM_001301028.3",
"protein_id": "NP_001287957.1",
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"aa_end": null,
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"cds_start": 965,
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"cdna_start": 1330,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "XM_024446004.2",
"protein_id": "XP_024301772.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 634,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 4408,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Arg322Leu",
"transcript": "XM_005268394.3",
"protein_id": "XP_005268451.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 621,
"cds_start": 965,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "XM_011537609.4",
"protein_id": "XP_011535911.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
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"cds_start": 1151,
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"cdna_start": 1400,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "n.311G>T",
"hgvs_p": null,
"transcript": "ENST00000514212.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "n.*588G>T",
"hgvs_p": null,
"transcript": "ENST00000515171.5",
"protein_id": "ENSP00000421002.1",
"transcript_support_level": 2,
"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": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "n.263G>T",
"hgvs_p": null,
"transcript": "ENST00000519549.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM3",
"gene_hgnc_id": 29132,
"hgvs_c": "n.*588G>T",
"hgvs_p": null,
"transcript": "ENST00000515171.5",
"protein_id": "ENSP00000421002.1",
"transcript_support_level": 2,
"aa_start": null,
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{
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"verdict": "Uncertain_significance",
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{
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{
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}