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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: 8-95048547-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=95048547&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 95048547,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000396124.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.805C>A",
"hgvs_p": "p.His269Asn",
"transcript": "NM_152416.4",
"protein_id": "NP_689629.2",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 333,
"cds_start": 805,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": "ENST00000396124.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.805C>A",
"hgvs_p": "p.His269Asn",
"transcript": "ENST00000396124.9",
"protein_id": "ENSP00000379430.4",
"transcript_support_level": 2,
"aa_start": 269,
"aa_end": null,
"aa_length": 333,
"cds_start": 805,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": "NM_152416.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.649C>A",
"hgvs_p": "p.His217Asn",
"transcript": "NM_001354516.2",
"protein_id": "NP_001341445.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 281,
"cds_start": 649,
"cds_end": null,
"cds_length": 846,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.529C>A",
"hgvs_p": "p.His177Asn",
"transcript": "NM_001330582.2",
"protein_id": "NP_001317511.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 241,
"cds_start": 529,
"cds_end": null,
"cds_length": 726,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.529C>A",
"hgvs_p": "p.His177Asn",
"transcript": "NM_001354514.2",
"protein_id": "NP_001341443.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 241,
"cds_start": 529,
"cds_end": null,
"cds_length": 726,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.529C>A",
"hgvs_p": "p.His177Asn",
"transcript": "NM_001354515.2",
"protein_id": "NP_001341444.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 241,
"cds_start": 529,
"cds_end": null,
"cds_length": 726,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.529C>A",
"hgvs_p": "p.His177Asn",
"transcript": "ENST00000396111.6",
"protein_id": "ENSP00000379417.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 241,
"cds_start": 529,
"cds_end": null,
"cds_length": 726,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.529C>A",
"hgvs_p": "p.His177Asn",
"transcript": "ENST00000396113.5",
"protein_id": "ENSP00000379419.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 241,
"cds_start": 529,
"cds_end": null,
"cds_length": 726,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.529C>A",
"hgvs_p": "p.His177Asn",
"transcript": "ENST00000697364.1",
"protein_id": "ENSP00000513278.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 241,
"cds_start": 529,
"cds_end": null,
"cds_length": 726,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.472C>A",
"hgvs_p": "p.His158Asn",
"transcript": "NM_001354517.2",
"protein_id": "NP_001341446.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 222,
"cds_start": 472,
"cds_end": null,
"cds_length": 669,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.472C>A",
"hgvs_p": "p.His158Asn",
"transcript": "NM_001354518.2",
"protein_id": "NP_001341447.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 222,
"cds_start": 472,
"cds_end": null,
"cds_length": 669,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.472C>A",
"hgvs_p": "p.His158Asn",
"transcript": "NM_001354519.2",
"protein_id": "NP_001341448.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 222,
"cds_start": 472,
"cds_end": null,
"cds_length": 669,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.529C>A",
"hgvs_p": "p.His177Asn",
"transcript": "NM_001354521.2",
"protein_id": "NP_001341450.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 222,
"cds_start": 529,
"cds_end": null,
"cds_length": 669,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.His117Asn",
"transcript": "NM_001354522.2",
"protein_id": "NP_001341451.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 181,
"cds_start": 349,
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"cdna_start": 1165,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.His117Asn",
"transcript": "NM_001354524.2",
"protein_id": "NP_001341453.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 181,
"cds_start": 349,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.His117Asn",
"transcript": "NM_001354525.2",
"protein_id": "NP_001341454.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 349,
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"cdna_start": 1282,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.His117Asn",
"transcript": "NM_001354527.2",
"protein_id": "NP_001341456.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 181,
"cds_start": 349,
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"cdna_start": 1166,
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"cdna_length": 2136,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.His117Asn",
"transcript": "NM_001354528.2",
"protein_id": "NP_001341457.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 181,
"cds_start": 349,
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"cds_length": 546,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.His117Asn",
"transcript": "NM_001354529.2",
"protein_id": "NP_001341458.1",
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"aa_start": 117,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.His117Asn",
"transcript": "NM_001354530.2",
"protein_id": "NP_001341459.1",
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"aa_start": 117,
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"cds_start": 349,
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"cdna_start": 1051,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.His117Asn",
"transcript": "NM_001354531.2",
"protein_id": "NP_001341460.1",
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"aa_start": 117,
"aa_end": null,
"aa_length": 181,
"cds_start": 349,
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"cdna_start": 1047,
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"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.His117Asn",
"transcript": "NM_001354532.2",
"protein_id": "NP_001341461.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 181,
"cds_start": 349,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
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}