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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: 1-161356727-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161356727&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161356727,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001407115.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.292T>C",
"hgvs_p": "p.Ser98Pro",
"transcript": "NM_003001.5",
"protein_id": "NP_002992.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 169,
"cds_start": 292,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367975.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003001.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.292T>C",
"hgvs_p": "p.Ser98Pro",
"transcript": "ENST00000367975.7",
"protein_id": "ENSP00000356953.3",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 169,
"cds_start": 292,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003001.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367975.7"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.190T>C",
"hgvs_p": "p.Ser64Pro",
"transcript": "ENST00000432287.6",
"protein_id": "ENSP00000390558.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 135,
"cds_start": 190,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432287.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.133T>C",
"hgvs_p": "p.Ser45Pro",
"transcript": "ENST00000392169.6",
"protein_id": "ENSP00000376009.2",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 116,
"cds_start": 133,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392169.6"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.242-5602T>C",
"hgvs_p": null,
"transcript": "ENST00000342751.8",
"protein_id": "ENSP00000356952.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342751.8"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.140-5602T>C",
"hgvs_p": null,
"transcript": "ENST00000513009.5",
"protein_id": "ENSP00000423260.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513009.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.412T>C",
"hgvs_p": "p.Ser138Pro",
"transcript": "NM_001407115.1",
"protein_id": "NP_001394044.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 209,
"cds_start": 412,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407115.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.397T>C",
"hgvs_p": "p.Ser133Pro",
"transcript": "ENST00000893931.1",
"protein_id": "ENSP00000563990.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 204,
"cds_start": 397,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893931.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.322T>C",
"hgvs_p": "p.Ser108Pro",
"transcript": "ENST00000714063.1",
"protein_id": "ENSP00000519354.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 179,
"cds_start": 322,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714063.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.319T>C",
"hgvs_p": "p.Ser107Pro",
"transcript": "ENST00000893930.1",
"protein_id": "ENSP00000563989.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 178,
"cds_start": 319,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893930.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.283T>C",
"hgvs_p": "p.Ser95Pro",
"transcript": "ENST00000893929.1",
"protein_id": "ENSP00000563988.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 166,
"cds_start": 283,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893929.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.235T>C",
"hgvs_p": "p.Ser79Pro",
"transcript": "NM_001407116.1",
"protein_id": "NP_001394045.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 150,
"cds_start": 235,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407116.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.229T>C",
"hgvs_p": "p.Ser77Pro",
"transcript": "NM_001407117.1",
"protein_id": "NP_001394046.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 148,
"cds_start": 229,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407117.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.190T>C",
"hgvs_p": "p.Ser64Pro",
"transcript": "NM_001035512.3",
"protein_id": "NP_001030589.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 135,
"cds_start": 190,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035512.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "NM_001407118.1",
"protein_id": "NP_001394047.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 133,
"cds_start": 184,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407118.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.181T>C",
"hgvs_p": "p.Ser61Pro",
"transcript": "NM_001407119.1",
"protein_id": "NP_001394048.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 132,
"cds_start": 181,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407119.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.181T>C",
"hgvs_p": "p.Ser61Pro",
"transcript": "NM_001407120.1",
"protein_id": "NP_001394049.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 132,
"cds_start": 181,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407120.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.181T>C",
"hgvs_p": "p.Ser61Pro",
"transcript": "ENST00000714064.1",
"protein_id": "ENSP00000519355.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 132,
"cds_start": 181,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714064.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.181T>C",
"hgvs_p": "p.Ser61Pro",
"transcript": "ENST00000714065.1",
"protein_id": "ENSP00000519356.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 132,
"cds_start": 181,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714065.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.181T>C",
"hgvs_p": "p.Ser61Pro",
"transcript": "ENST00000714066.1",
"protein_id": "ENSP00000519357.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 132,
"cds_start": 181,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714066.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.133T>C",
"hgvs_p": "p.Ser45Pro",
"transcript": "NM_001035513.3",
"protein_id": "NP_001030590.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 116,
"cds_start": 133,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035513.3"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.242-5602T>C",
"hgvs_p": null,
"transcript": "NM_001035511.3",
"protein_id": "NP_001030588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035511.3"
},
{
"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": 4,
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{
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{
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{
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"feature": "ENST00000504963.5"
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],
"gene_symbol": "SDHC",
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"dbsnp": "rs371462564",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7518298625946045,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.645,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2876,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.273,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,BP6",
"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001407115.1",
"gene_symbol": "SDHC",
"hgnc_id": 10682,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.412T>C",
"hgvs_p": "p.Ser138Pro"
}
],
"clinvar_disease": "Gastrointestinal stromal tumor,Hereditary cancer-predisposing syndrome,Pheochromocytoma/paraganglioma syndrome 3",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}