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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: 6-24848144-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24848144&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 24848144,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000643898.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.1045G>T",
"hgvs_p": "p.Val349Leu",
"transcript": "NM_001286445.3",
"protein_id": "NP_001273374.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1045,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": "ENST00000643898.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.1045G>T",
"hgvs_p": "p.Val349Leu",
"transcript": "ENST00000643898.2",
"protein_id": "ENSP00000494268.2",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1045,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": "NM_001286445.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "ENST00000259698.9",
"protein_id": "ENSP00000259698.4",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 1068,
"cds_start": 958,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 5553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "ENST00000378023.8",
"protein_id": "ENSP00000367262.4",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 591,
"cds_start": 958,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "NM_014722.5",
"protein_id": "NP_055537.2",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 1068,
"cds_start": 958,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 5553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "ENST00000613507.4",
"protein_id": "ENSP00000482957.1",
"transcript_support_level": 5,
"aa_start": 320,
"aa_end": null,
"aa_length": 1068,
"cds_start": 958,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "NM_001346031.2",
"protein_id": "NP_001332960.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 1018,
"cds_start": 958,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 5403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "NM_001346032.2",
"protein_id": "NP_001332961.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 1018,
"cds_start": 958,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 5359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "ENST00000538035.6",
"protein_id": "ENSP00000441138.2",
"transcript_support_level": 2,
"aa_start": 320,
"aa_end": null,
"aa_length": 1018,
"cds_start": 958,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "ENST00000644411.1",
"protein_id": "ENSP00000494904.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 663,
"cds_start": 958,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.1060G>T",
"hgvs_p": "p.Val354Leu",
"transcript": "NM_001286446.3",
"protein_id": "NP_001273375.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 647,
"cds_start": 1060,
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"cds_length": 1944,
"cdna_start": 1302,
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"cdna_length": 3546,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.1060G>T",
"hgvs_p": "p.Val354Leu",
"transcript": "ENST00000510784.8",
"protein_id": "ENSP00000441305.1",
"transcript_support_level": 2,
"aa_start": 354,
"aa_end": null,
"aa_length": 647,
"cds_start": 1060,
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"cds_length": 1944,
"cdna_start": 1152,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.1045G>T",
"hgvs_p": "p.Val349Leu",
"transcript": "ENST00000645100.1",
"protein_id": "ENSP00000495879.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 642,
"cds_start": 1045,
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"cdna_start": 1095,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "NM_001286447.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 12,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "ENST00000540914.5",
"protein_id": "ENSP00000438425.1",
"transcript_support_level": 2,
"aa_start": 320,
"aa_end": null,
"aa_length": 613,
"cds_start": 958,
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"cdna_start": 1399,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "ENST00000647136.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "NM_015864.5",
"protein_id": "NP_056948.2",
"transcript_support_level": null,
"aa_start": 320,
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"aa_length": 591,
"cds_start": 958,
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"cdna_start": 1304,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "ENST00000643623.1",
"protein_id": "ENSP00000495245.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 591,
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"cdna_start": 1140,
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"feature": null
},
{
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"consequences": [
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],
"exon_rank": 12,
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"gene_symbol": "RIPOR2",
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"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "ENST00000644621.1",
"protein_id": "ENSP00000495914.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 12,
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"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
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"hgvs_c": "c.1060G>T",
"hgvs_p": "p.Val354Leu",
"transcript": "XM_011515012.2",
"protein_id": "XP_011513314.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "RIPOR2",
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"hgvs_c": "c.1060G>T",
"hgvs_p": "p.Val354Leu",
"transcript": "XM_006715275.3",
"protein_id": "XP_006715338.1",
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"aa_start": 354,
"aa_end": null,
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"cds_start": 1060,
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"cdna_start": 1302,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.958G>T",
"hgvs_p": "p.Val320Leu",
"transcript": "XM_006715279.3",
"protein_id": "XP_006715342.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 1018,
"cds_start": 958,
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"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 5492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
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}
],
"message": null
}