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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: 6-136272597-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=136272597&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 136272597,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_014739.3",
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1958+485G>T",
"hgvs_p": null,
"transcript": "NM_014739.3",
"protein_id": "NP_055554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": null,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000531224.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014739.3"
},
{
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1958+485G>T",
"hgvs_p": null,
"transcript": "ENST00000531224.6",
"protein_id": "ENSP00000435210.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": null,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014739.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531224.6"
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1952+485G>T",
"hgvs_p": null,
"transcript": "ENST00000527759.5",
"protein_id": "ENSP00000434826.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": null,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527759.5"
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1439+485G>T",
"hgvs_p": null,
"transcript": "ENST00000530767.5",
"protein_id": "ENSP00000436501.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 747,
"cds_start": null,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530767.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "n.1958+485G>T",
"hgvs_p": null,
"transcript": "ENST00000527613.5",
"protein_id": "ENSP00000436216.1",
"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": "ENST00000527613.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "n.*256+485G>T",
"hgvs_p": null,
"transcript": "ENST00000534269.5",
"protein_id": "ENSP00000433822.1",
"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": "ENST00000534269.5"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1958+485G>T",
"hgvs_p": null,
"transcript": "NM_001386700.1",
"protein_id": "NP_001373629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": null,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386700.1"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1958+485G>T",
"hgvs_p": null,
"transcript": "NM_001386701.1",
"protein_id": "NP_001373630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": null,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386701.1"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1958+485G>T",
"hgvs_p": null,
"transcript": "ENST00000912032.1",
"protein_id": "ENSP00000582091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": null,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912032.1"
},
{
"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": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1958+485G>T",
"hgvs_p": null,
"transcript": "ENST00000912035.1",
"protein_id": "ENSP00000582094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": null,
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"cds_length": 2763,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912035.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1958+485G>T",
"hgvs_p": null,
"transcript": "NM_001386693.1",
"protein_id": "NP_001373622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 919,
"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_001386693.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
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"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1952+485G>T",
"hgvs_p": null,
"transcript": "NM_001301038.3",
"protein_id": "NP_001287967.1",
"transcript_support_level": null,
"aa_start": null,
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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": "NM_001301038.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1958+485G>T",
"hgvs_p": null,
"transcript": "NM_001363659.3",
"protein_id": "NP_001350588.1",
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"aa_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_001363659.3"
},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "BCLAF1",
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"hgvs_c": "c.1958+485G>T",
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"transcript": "ENST00000527536.5",
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"feature": "ENST00000527536.5"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 7,
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"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1958+485G>T",
"hgvs_p": null,
"transcript": "ENST00000912034.1",
"protein_id": "ENSP00000582093.1",
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},
{
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],
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"intron_rank": 7,
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"gene_symbol": "BCLAF1",
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"hgvs_c": "c.1958+485G>T",
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"transcript": "NM_001386694.1",
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"biotype": "protein_coding",
"feature": "NM_001386694.1"
},
{
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"protein_coding": true,
"strand": false,
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],
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"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1952+485G>T",
"hgvs_p": null,
"transcript": "NM_001077440.3",
"protein_id": "NP_001070908.1",
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"biotype": "protein_coding",
"feature": "NM_001077440.3"
},
{
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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": 7,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1952+485G>T",
"hgvs_p": null,
"transcript": "ENST00000353331.8",
"protein_id": "ENSP00000229446.5",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "BCLAF1",
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"hgvs_c": "c.1952+485G>T",
"hgvs_p": null,
"transcript": "ENST00000392348.6",
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},
{
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"strand": false,
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"intron_variant"
],
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"intron_rank": 7,
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"gene_symbol": "BCLAF1",
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"hgvs_c": "c.1952+485G>T",
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"transcript": "ENST00000945212.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1610+485G>T",
"hgvs_p": null,
"transcript": "ENST00000945211.1",
"protein_id": "ENSP00000615270.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000945211.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.1958+485G>T",
"hgvs_p": null,
"transcript": "ENST00000628517.2",
"protein_id": "ENSP00000487249.1",
"transcript_support_level": 5,
"aa_start": 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": "ENST00000628517.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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}
],
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}