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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: 7-124841179-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=124841179&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 124841179,
"ref": "C",
"alt": "T",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_015450.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "NM_015450.3",
"protein_id": "NP_056265.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357628.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015450.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000357628.8",
"protein_id": "ENSP00000350249.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015450.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357628.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000607932.5",
"protein_id": "ENSP00000476506.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000607932.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*261-1G>A",
"hgvs_p": null,
"transcript": "ENST00000608057.5",
"protein_id": "ENSP00000476371.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000608057.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000653241.1",
"protein_id": "ENSP00000499476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000653241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000655761.1",
"protein_id": "ENSP00000499635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000655761.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000664366.1",
"protein_id": "ENSP00000499290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000664366.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000668382.1",
"protein_id": "ENSP00000499546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000668382.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000867252.1",
"protein_id": "ENSP00000537311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867252.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000867254.1",
"protein_id": "ENSP00000537313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867254.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000928342.1",
"protein_id": "ENSP00000598401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928342.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000928344.1",
"protein_id": "ENSP00000598403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928344.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000928345.1",
"protein_id": "ENSP00000598404.1",
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"aa_start": null,
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"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": "ENST00000928345.1"
},
{
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"strand": false,
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"splice_acceptor_variant",
"intron_variant"
],
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"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
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"transcript": "ENST00000928346.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928346.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000947757.1",
"protein_id": "ENSP00000617816.1",
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"feature": "ENST00000947757.1"
},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 12,
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"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
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"transcript": "ENST00000947758.1",
"protein_id": "ENSP00000617817.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947758.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000947756.1",
"protein_id": "ENSP00000617815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": null,
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"cds_length": 1890,
"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947756.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 13,
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"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
"hgvs_p": null,
"transcript": "ENST00000654766.1",
"protein_id": "ENSP00000499395.1",
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"biotype": "protein_coding",
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},
{
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"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1164-1G>A",
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"transcript": "ENST00000928341.1",
"protein_id": "ENSP00000598400.1",
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"biotype": "protein_coding",
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POT1",
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"hgvs_c": "c.873-1G>A",
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"transcript": "ENST00000867253.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000867253.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.873-1G>A",
"hgvs_p": null,
"transcript": "ENST00000928343.1",
"protein_id": "ENSP00000598402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": null,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928343.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.771-1G>A",
"hgvs_p": null,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:1",
"phenotype_combined": "Long telomere syndrome|Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
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}
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}