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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: 4-109747495-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=109747495&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 109747495,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000394634.7",
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1149-993C>T",
"hgvs_p": null,
"transcript": "NM_000204.5",
"protein_id": "NP_000195.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": -4,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": "ENST00000394634.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1149-993C>T",
"hgvs_p": null,
"transcript": "ENST00000394634.7",
"protein_id": "ENSP00000378130.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": -4,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": "NM_000204.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285330",
"gene_hgnc_id": null,
"hgvs_c": "c.1149-993C>T",
"hgvs_p": null,
"transcript": "ENST00000645635.1",
"protein_id": "ENSP00000493607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1173-993C>T",
"hgvs_p": null,
"transcript": "NM_001375278.1",
"protein_id": "NP_001362207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2085,
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1170-993C>T",
"hgvs_p": null,
"transcript": "NM_001440985.1",
"protein_id": "NP_001427914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2082,
"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": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1149-993C>T",
"hgvs_p": null,
"transcript": "NM_001375279.1",
"protein_id": "NP_001362208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": -4,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2061,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1173-993C>T",
"hgvs_p": null,
"transcript": "NM_001318057.2",
"protein_id": "NP_001304986.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": -4,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2002,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1173-993C>T",
"hgvs_p": null,
"transcript": "ENST00000394635.8",
"protein_id": "ENSP00000378131.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": -4,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2002,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1170-993C>T",
"hgvs_p": null,
"transcript": "NM_001440986.1",
"protein_id": "NP_001427915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1999,
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1128-993C>T",
"hgvs_p": null,
"transcript": "NM_001375280.1",
"protein_id": "NP_001362209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": -4,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2040,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1128-993C>T",
"hgvs_p": null,
"transcript": "NM_001331035.2",
"protein_id": "NP_001317964.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 576,
"cds_start": -4,
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"cdna_start": null,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1128-993C>T",
"hgvs_p": null,
"transcript": "ENST00000512148.5",
"protein_id": "ENSP00000427438.1",
"transcript_support_level": 5,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1092-993C>T",
"hgvs_p": null,
"transcript": "NM_001375283.1",
"protein_id": "NP_001362212.1",
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"aa_start": null,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
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"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1173-993C>T",
"hgvs_p": null,
"transcript": "NM_001440988.1",
"protein_id": "NP_001427917.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "CFI",
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"hgvs_c": "c.1149-993C>T",
"hgvs_p": null,
"transcript": "NM_001375281.1",
"protein_id": "NP_001362210.1",
"transcript_support_level": null,
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1128-993C>T",
"hgvs_p": null,
"transcript": "NM_001375282.1",
"protein_id": "NP_001362211.1",
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},
{
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],
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"gene_symbol": "CFI",
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"hgvs_c": "c.1149-993C>T",
"hgvs_p": null,
"transcript": "NM_001440989.1",
"protein_id": "NP_001427918.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.1128-993C>T",
"hgvs_p": null,
"transcript": "NM_001440991.1",
"protein_id": "NP_001427920.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.540-993C>T",
"hgvs_p": null,
"transcript": "NM_001375284.1",
"protein_id": "NP_001362213.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "CFI",
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"transcript": "ENST00000504853.3",
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},
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "CFI",
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"hgvs_c": "n.1328-993C>T",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "n.1327-993C>T",
"hgvs_p": null,
"transcript": "ENST00000695845.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "n.1173-993C>T",
"hgvs_p": null,
"transcript": "ENST00000695846.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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{
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}
],
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}