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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: 8-141215862-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=141215862&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 141215862,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000517878.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "NM_001286646.2",
"protein_id": "NP_001273575.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 808,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": "ENST00000517878.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "ENST00000517878.6",
"protein_id": "ENSP00000428137.1",
"transcript_support_level": 1,
"aa_start": 613,
"aa_end": null,
"aa_length": 808,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": "NM_001286646.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.Asn562Ser",
"transcript": "ENST00000024061.7",
"protein_id": "ENSP00000024061.3",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 798,
"cds_start": 1685,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 3546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.Asn562Ser",
"transcript": "ENST00000519067.5",
"protein_id": "ENSP00000429059.1",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 717,
"cds_start": 1685,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.Asn562Ser",
"transcript": "NM_001080431.3",
"protein_id": "NP_001073900.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 798,
"cds_start": 1685,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 6973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.Asn562Ser",
"transcript": "NM_001286648.2",
"protein_id": "NP_001273577.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 717,
"cds_start": 1685,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "XM_011517173.3",
"protein_id": "XP_011515475.2",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 843,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 3218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "XM_047421997.1",
"protein_id": "XP_047277953.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 843,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "XM_047421998.1",
"protein_id": "XP_047277954.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 843,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 3112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "XM_047421999.1",
"protein_id": "XP_047277955.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 843,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2991,
"cdna_end": null,
"cdna_length": 3778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "XM_047422000.1",
"protein_id": "XP_047277956.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 843,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 7624,
"cdna_end": null,
"cdna_length": 8411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "XM_011517171.3",
"protein_id": "XP_011515473.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 808,
"cds_start": 1838,
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"cdna_start": 2325,
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"cdna_length": 7312,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "XM_047422001.1",
"protein_id": "XP_047277957.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 808,
"cds_start": 1838,
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"cdna_start": 2785,
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"cdna_length": 7772,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "XM_047422002.1",
"protein_id": "XP_047277958.1",
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"cdna_start": 4346,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.Asn562Ser",
"transcript": "XM_047422003.1",
"protein_id": "XP_047277959.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 792,
"cds_start": 1685,
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"cds_length": 2379,
"cdna_start": 1993,
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"cdna_length": 2780,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Asn550Ser",
"transcript": "XM_047422004.1",
"protein_id": "XP_047277960.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Asn550Ser",
"transcript": "XM_047422005.1",
"protein_id": "XP_047277961.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 780,
"cds_start": 1649,
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"cdna_start": 4158,
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"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Asn544Ser",
"transcript": "XM_047422006.1",
"protein_id": "XP_047277962.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 774,
"cds_start": 1631,
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"cdna_start": 5201,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1625A>G",
"hgvs_p": "p.Asn542Ser",
"transcript": "XM_047422007.1",
"protein_id": "XP_047277963.1",
"transcript_support_level": null,
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"mane_select": null,
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},
{
"aa_ref": "N",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "XM_011517172.3",
"protein_id": "XP_011515474.2",
"transcript_support_level": null,
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"aa_end": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "XM_047422008.1",
"protein_id": "XP_047277964.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 768,
"cds_start": 1838,
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"cdna_start": 4343,
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"cdna_length": 5057,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A4",
"gene_hgnc_id": 29196,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Asn613Ser",
"transcript": "XM_047422009.1",
"protein_id": "XP_047277965.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 768,
"cds_start": 1838,
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"cds_length": 2307,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
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{
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"BS2"
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"effects": [
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"inheritance_mode": "AR",
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{
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],
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}