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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: 10-24308053-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=24308053&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 24308053,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_019590.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.355-72816A>T",
"hgvs_p": null,
"transcript": "NM_019590.5",
"protein_id": "NP_062536.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1943,
"cds_start": -4,
"cds_end": null,
"cds_length": 5832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7407,
"mane_select": "ENST00000376454.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.355-72816A>T",
"hgvs_p": null,
"transcript": "ENST00000376454.8",
"protein_id": "ENSP00000365637.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1943,
"cds_start": -4,
"cds_end": null,
"cds_length": 5832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7407,
"mane_select": "NM_019590.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.355-72816A>T",
"hgvs_p": null,
"transcript": "ENST00000376452.7",
"protein_id": "ENSP00000365635.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": -4,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.355-72816A>T",
"hgvs_p": null,
"transcript": "ENST00000458595.5",
"protein_id": "ENSP00000392625.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1349,
"cds_start": -4,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.115-72816A>T",
"hgvs_p": null,
"transcript": "ENST00000376462.5",
"protein_id": "ENSP00000365645.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.117+52457A>T",
"hgvs_p": null,
"transcript": "ENST00000696626.1",
"protein_id": "ENSP00000512763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1864,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 8471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.355-72816A>T",
"hgvs_p": null,
"transcript": "NM_001282767.2",
"protein_id": "NP_001269696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.355-72816A>T",
"hgvs_p": null,
"transcript": "NM_001282768.2",
"protein_id": "NP_001269697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1349,
"cds_start": -4,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.115-72816A>T",
"hgvs_p": null,
"transcript": "NM_001098500.3",
"protein_id": "NP_001091970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 2,
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"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.115-72816A>T",
"hgvs_p": null,
"transcript": "ENST00000430453.6",
"protein_id": "ENSP00000389680.3",
"transcript_support_level": 5,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "KIAA1217",
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"hgvs_c": "c.355-72816A>T",
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"transcript": "ENST00000376456.8",
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},
{
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],
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},
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],
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},
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"gene_symbol": "KIAA1217",
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],
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},
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],
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],
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],
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"gene_symbol": "KIAA1217",
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"hgvs_c": "c.-97+68716A>T",
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},
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],
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"gene_symbol": "KIAA1217",
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"hgvs_c": "c.-97+68716A>T",
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