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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: 9-132329316-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132329316&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132329316,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001351528.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "NM_015046.7",
"protein_id": "NP_055861.3",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2677,
"cds_start": 2282,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000224140.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015046.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "ENST00000224140.6",
"protein_id": "ENSP00000224140.5",
"transcript_support_level": 1,
"aa_start": 761,
"aa_end": null,
"aa_length": 2677,
"cds_start": 2282,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015046.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000224140.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "ENST00000923216.1",
"protein_id": "ENSP00000593275.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2719,
"cds_start": 2282,
"cds_end": null,
"cds_length": 8160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923216.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "NM_001351528.2",
"protein_id": "NP_001338457.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2706,
"cds_start": 2282,
"cds_end": null,
"cds_length": 8121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351528.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "ENST00000923217.1",
"protein_id": "ENSP00000593276.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2690,
"cds_start": 2282,
"cds_end": null,
"cds_length": 8073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923217.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "NM_001351527.2",
"protein_id": "NP_001338456.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2677,
"cds_start": 2282,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351527.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "ENST00000905306.1",
"protein_id": "ENSP00000575365.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2677,
"cds_start": 2282,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905306.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "ENST00000923215.1",
"protein_id": "ENSP00000593274.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2677,
"cds_start": 2282,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923215.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "ENST00000923219.1",
"protein_id": "ENSP00000593278.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2668,
"cds_start": 2282,
"cds_end": null,
"cds_length": 8007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923219.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "ENST00000947394.1",
"protein_id": "ENSP00000617453.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2655,
"cds_start": 2282,
"cds_end": null,
"cds_length": 7968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947394.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "XM_005272172.4",
"protein_id": "XP_005272229.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2706,
"cds_start": 2282,
"cds_end": null,
"cds_length": 8121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272172.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "XM_005272173.4",
"protein_id": "XP_005272230.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2706,
"cds_start": 2282,
"cds_end": null,
"cds_length": 8121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272173.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "XM_011518404.4",
"protein_id": "XP_011516706.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2706,
"cds_start": 2282,
"cds_end": null,
"cds_length": 8121,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518404.4"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "XM_011518405.4",
"protein_id": "XP_011516707.1",
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"aa_start": 761,
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"cds_start": 2282,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518405.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "XM_047423023.1",
"protein_id": "XP_047278979.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2677,
"cds_start": 2282,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423023.1"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "XM_011518406.3",
"protein_id": "XP_011516708.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2413,
"cds_start": 2282,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518406.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "XM_011518407.2",
"protein_id": "XP_011516709.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 2372,
"cds_start": 2282,
"cds_end": null,
"cds_length": 7119,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518407.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "XM_011518408.4",
"protein_id": "XP_011516710.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
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"cds_start": 2282,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011518408.4"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "XM_047423024.1",
"protein_id": "XP_047278980.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1695,
"cds_start": 2282,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423024.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu",
"transcript": "XM_047423025.1",
"protein_id": "XP_047278981.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 2282,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423025.1"
},
{
"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": 26,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.1293+989C>T",
"hgvs_p": null,
"transcript": "ENST00000923218.1",
"protein_id": "ENSP00000593277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1350,
"cds_start": null,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923218.1"
},
{
"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": 25,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"hgvs_c": "c.1098+1736C>T",
"hgvs_p": null,
"transcript": "ENST00000905305.1",
"protein_id": "ENSP00000575364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": null,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905305.1"
}
],
"gene_symbol": "SETX",
"gene_hgnc_id": 445,
"dbsnp": "rs200153024",
"frequency_reference_population": 0.000089852714,
"hom_count_reference_population": 0,
"allele_count_reference_population": 145,
"gnomad_exomes_af": 0.0000424218,
"gnomad_genomes_af": 0.000545192,
"gnomad_exomes_ac": 62,
"gnomad_genomes_ac": 83,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.022664248943328857,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.347,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1076,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.493,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001351528.2",
"gene_symbol": "SETX",
"hgnc_id": 445,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2282C>T",
"hgvs_p": "p.Ser761Leu"
}
],
"clinvar_disease": " autosomal recessive, with axonal neuropathy 2,Amyotrophic lateral sclerosis type 4,Inborn genetic diseases,SETX-related disorder,Spinocerebellar ataxia,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4|Inborn genetic diseases|SETX-related disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}