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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: 7-74240801-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74240801&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 74240801,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_181471.3",
"consequences": [
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.536-706A>G",
"hgvs_p": null,
"transcript": "NM_181471.3",
"protein_id": "NP_852136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": null,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": "ENST00000055077.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181471.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.536-706A>G",
"hgvs_p": null,
"transcript": "ENST00000055077.8",
"protein_id": "ENSP00000055077.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": null,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": "NM_181471.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000055077.8"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.434-706A>G",
"hgvs_p": null,
"transcript": "ENST00000352131.7",
"protein_id": "ENSP00000275627.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352131.7"
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.536-706A>G",
"hgvs_p": null,
"transcript": "ENST00000858312.1",
"protein_id": "ENSP00000528371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": null,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858312.1"
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.536-706A>G",
"hgvs_p": null,
"transcript": "ENST00000858309.1",
"protein_id": "ENSP00000528368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": null,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858309.1"
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.536-706A>G",
"hgvs_p": null,
"transcript": "ENST00000858310.1",
"protein_id": "ENSP00000528369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": null,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858310.1"
},
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.533-706A>G",
"hgvs_p": null,
"transcript": "ENST00000927354.1",
"protein_id": "ENSP00000597413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": null,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927354.1"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.494-706A>G",
"hgvs_p": null,
"transcript": "ENST00000927358.1",
"protein_id": "ENSP00000597417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927358.1"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.536-706A>G",
"hgvs_p": null,
"transcript": "ENST00000858317.1",
"protein_id": "ENSP00000528376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
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"cds_length": 984,
"cdna_start": null,
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"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858317.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.434-706A>G",
"hgvs_p": null,
"transcript": "NM_002914.5",
"protein_id": "NP_002905.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_002914.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.431-706A>G",
"hgvs_p": null,
"transcript": "ENST00000927355.1",
"protein_id": "ENSP00000597414.1",
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"cds_start": null,
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},
{
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],
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"exon_count": 10,
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"gene_symbol": "RFC2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 4,
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"gene_symbol": "RFC2",
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},
{
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],
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.533-706A>G",
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"transcript": "ENST00000927362.1",
"protein_id": "ENSP00000597421.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
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"transcript": "ENST00000927363.1",
"protein_id": "ENSP00000597422.1",
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},
{
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],
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"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.536-706A>G",
"hgvs_p": null,
"transcript": "ENST00000858315.1",
"protein_id": "ENSP00000528374.1",
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},
{
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],
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"gene_symbol": "RFC2",
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"transcript": "ENST00000858311.1",
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},
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],
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"gene_symbol": "RFC2",
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"transcript": "NM_001278791.2",
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},
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],
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"transcript": "NM_001278792.2",
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"biotype": "protein_coding",
"feature": "NM_001278792.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RFC2",
"gene_hgnc_id": 9970,
"hgvs_c": "c.227-706A>G",
"hgvs_p": null,
"transcript": "ENST00000621097.4",
"protein_id": "ENSP00000479768.1",
"transcript_support_level": 5,
"aa_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000621097.4"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
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