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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: 9-133666770-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133666770&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133666770,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007101.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2596G>T",
"hgvs_p": "p.Ala866Ser",
"transcript": "NM_001134707.2",
"protein_id": "NP_001128179.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 918,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439388.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134707.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2596G>T",
"hgvs_p": "p.Ala866Ser",
"transcript": "ENST00000439388.6",
"protein_id": "ENSP00000403084.1",
"transcript_support_level": 2,
"aa_start": 866,
"aa_end": null,
"aa_length": 918,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134707.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439388.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2596G>T",
"hgvs_p": "p.Ala866Ser",
"transcript": "ENST00000371872.8",
"protein_id": "ENSP00000360938.4",
"transcript_support_level": 1,
"aa_start": 866,
"aa_end": null,
"aa_length": 918,
"cds_start": 2596,
"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": "ENST00000371872.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2776G>T",
"hgvs_p": "p.Ala926Ser",
"transcript": "ENST00000859366.1",
"protein_id": "ENSP00000529425.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 978,
"cds_start": 2776,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859366.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2683G>T",
"hgvs_p": "p.Ala895Ser",
"transcript": "ENST00000859363.1",
"protein_id": "ENSP00000529422.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 947,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859363.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2683G>T",
"hgvs_p": "p.Ala895Ser",
"transcript": "ENST00000859364.1",
"protein_id": "ENSP00000529423.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 947,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859364.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2683G>T",
"hgvs_p": "p.Ala895Ser",
"transcript": "ENST00000859370.1",
"protein_id": "ENSP00000529429.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 947,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859370.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2617G>T",
"hgvs_p": "p.Ala873Ser",
"transcript": "ENST00000859367.1",
"protein_id": "ENSP00000529426.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 925,
"cds_start": 2617,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859367.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2596G>T",
"hgvs_p": "p.Ala866Ser",
"transcript": "NM_007101.4",
"protein_id": "NP_009032.2",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 918,
"cds_start": 2596,
"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": "NM_007101.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2596G>T",
"hgvs_p": "p.Ala866Ser",
"transcript": "ENST00000859362.1",
"protein_id": "ENSP00000529421.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 918,
"cds_start": 2596,
"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": "ENST00000859362.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2596G>T",
"hgvs_p": "p.Ala866Ser",
"transcript": "ENST00000859369.1",
"protein_id": "ENSP00000529428.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 918,
"cds_start": 2596,
"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": "ENST00000859369.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2596G>T",
"hgvs_p": "p.Ala866Ser",
"transcript": "ENST00000859372.1",
"protein_id": "ENSP00000529431.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 918,
"cds_start": 2596,
"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": "ENST00000859372.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2596G>T",
"hgvs_p": "p.Ala866Ser",
"transcript": "ENST00000859373.1",
"protein_id": "ENSP00000529432.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 918,
"cds_start": 2596,
"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": "ENST00000859373.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2596G>T",
"hgvs_p": "p.Ala866Ser",
"transcript": "ENST00000859374.1",
"protein_id": "ENSP00000529433.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 918,
"cds_start": 2596,
"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": "ENST00000859374.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2596G>T",
"hgvs_p": "p.Ala866Ser",
"transcript": "ENST00000859375.1",
"protein_id": "ENSP00000529434.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 918,
"cds_start": 2596,
"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": "ENST00000859375.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2593G>T",
"hgvs_p": "p.Ala865Ser",
"transcript": "ENST00000859365.1",
"protein_id": "ENSP00000529424.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 917,
"cds_start": 2593,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859365.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2512G>T",
"hgvs_p": "p.Ala838Ser",
"transcript": "ENST00000859371.1",
"protein_id": "ENSP00000529430.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 890,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859371.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2491G>T",
"hgvs_p": "p.Ala831Ser",
"transcript": "ENST00000859368.1",
"protein_id": "ENSP00000529427.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 883,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859368.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2101G>T",
"hgvs_p": "p.Ala701Ser",
"transcript": "ENST00000928146.1",
"protein_id": "ENSP00000598205.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 753,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928146.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.946G>T",
"hgvs_p": "p.Ala316Ser",
"transcript": "ENST00000371868.5",
"protein_id": "ENSP00000360934.1",
"transcript_support_level": 2,
"aa_start": 316,
"aa_end": null,
"aa_length": 368,
"cds_start": 946,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371868.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2596G>T",
"hgvs_p": "p.Ala866Ser",
"transcript": "XM_047422894.1",
"protein_id": "XP_047278850.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 918,
"cds_start": 2596,
"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": "XM_047422894.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2596G>T",
"hgvs_p": "p.Ala866Ser",
"transcript": "XM_047422895.1",
"protein_id": "XP_047278851.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 918,
"cds_start": 2596,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
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{
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"verdict": "Likely_pathogenic",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}