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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: 8-19834515-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=19834515&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 19834515,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000397977.8",
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1530+1194A>G",
"hgvs_p": null,
"transcript": "NM_018142.4",
"protein_id": "NP_060612.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": -4,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": "ENST00000397977.8",
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1530+1194A>G",
"hgvs_p": null,
"transcript": "ENST00000397977.8",
"protein_id": "ENSP00000381064.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": -4,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": "NM_018142.4",
"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": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1533+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353505.2",
"protein_id": "NP_001340434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2598,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1530+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353506.2",
"protein_id": "NP_001340435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2595,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1530+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353507.2",
"protein_id": "NP_001340436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2595,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1527+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353508.2",
"protein_id": "NP_001340437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": -4,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2592,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1467+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353509.2",
"protein_id": "NP_001340438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2532,
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1533+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353510.2",
"protein_id": "NP_001340439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2520,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1395+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353511.2",
"protein_id": "NP_001340440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": -4,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2676,
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1395+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353512.2",
"protein_id": "NP_001340441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 665,
"cds_start": -4,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2598,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1194+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353513.2",
"protein_id": "NP_001340442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2729,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1191+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353514.2",
"protein_id": "NP_001340443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
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"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.1191+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353515.2",
"protein_id": "NP_001340444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": -4,
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"cds_length": 1794,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.846+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353516.2",
"protein_id": "NP_001340445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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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"
],
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"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.843+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353517.2",
"protein_id": "NP_001340446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.843+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353518.2",
"protein_id": "NP_001340447.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 11,
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"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.843+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353519.2",
"protein_id": "NP_001340448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.780+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353520.2",
"protein_id": "NP_001340449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 486,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2392,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.843+1194A>G",
"hgvs_p": null,
"transcript": "NM_001353521.2",
"protein_id": "NP_001340450.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "c.843+1194A>G",
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"transcript": "NM_001353522.2",
"protein_id": "NP_001340451.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "INTS10",
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"hgvs_c": "c.276+1194A>G",
"hgvs_p": null,
"transcript": "ENST00000518799.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "n.163+1194A>G",
"hgvs_p": null,
"transcript": "ENST00000519493.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "INTS10",
"gene_hgnc_id": 25548,
"hgvs_c": "n.*376+1194A>G",
"hgvs_p": null,
"transcript": "ENST00000521357.5",
"protein_id": "ENSP00000430704.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 876,
"mane_select": null,
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}