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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: 1-241504130-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=241504130&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 241504130,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000143.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.1020T>A",
"hgvs_p": "p.Asn340Lys",
"transcript": "NM_000143.4",
"protein_id": "NP_000134.2",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 510,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366560.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000143.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.1020T>A",
"hgvs_p": "p.Asn340Lys",
"transcript": "ENST00000366560.4",
"protein_id": "ENSP00000355518.4",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 510,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000143.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366560.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.1017T>A",
"hgvs_p": "p.Asn339Lys",
"transcript": "ENST00000958409.1",
"protein_id": "ENSP00000628468.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 509,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958409.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.972T>A",
"hgvs_p": "p.Asn324Lys",
"transcript": "ENST00000932939.1",
"protein_id": "ENSP00000602998.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 494,
"cds_start": 972,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932939.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.1020T>A",
"hgvs_p": "p.Asn340Lys",
"transcript": "ENST00000683521.1",
"protein_id": "ENSP00000506864.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 480,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683521.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.909T>A",
"hgvs_p": "p.Asn303Lys",
"transcript": "ENST00000865387.1",
"protein_id": "ENSP00000535446.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 473,
"cds_start": 909,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865387.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.885T>A",
"hgvs_p": "p.Asn295Lys",
"transcript": "ENST00000865385.1",
"protein_id": "ENSP00000535444.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 465,
"cds_start": 885,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865385.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.1020T>A",
"hgvs_p": "p.Asn340Lys",
"transcript": "ENST00000865388.1",
"protein_id": "ENSP00000535447.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 452,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865388.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.843T>A",
"hgvs_p": "p.Asn281Lys",
"transcript": "ENST00000865386.1",
"protein_id": "ENSP00000535445.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 451,
"cds_start": 843,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865386.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.837T>A",
"hgvs_p": "p.Asn279Lys",
"transcript": "ENST00000865389.1",
"protein_id": "ENSP00000535448.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 449,
"cds_start": 837,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865389.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.732T>A",
"hgvs_p": "p.Asn244Lys",
"transcript": "ENST00000958407.1",
"protein_id": "ENSP00000628466.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 414,
"cds_start": 732,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958407.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Asn220Lys",
"transcript": "ENST00000865384.1",
"protein_id": "ENSP00000535443.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 390,
"cds_start": 660,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865384.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.414T>A",
"hgvs_p": "p.Asn138Lys",
"transcript": "ENST00000958408.1",
"protein_id": "ENSP00000628467.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 308,
"cds_start": 414,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958408.1"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.905-35T>A",
"hgvs_p": null,
"transcript": "ENST00000958406.1",
"protein_id": "ENSP00000628465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": null,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958406.1"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "c.905-1560T>A",
"hgvs_p": null,
"transcript": "ENST00000865390.1",
"protein_id": "ENSP00000535449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "n.1523T>A",
"hgvs_p": null,
"transcript": "ENST00000493477.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493477.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "n.*863T>A",
"hgvs_p": null,
"transcript": "ENST00000682162.1",
"protein_id": "ENSP00000508203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682162.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "n.1097T>A",
"hgvs_p": null,
"transcript": "ENST00000682567.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000682567.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "n.2235T>A",
"hgvs_p": null,
"transcript": "ENST00000684161.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684161.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "n.*416T>A",
"hgvs_p": null,
"transcript": "ENST00000684483.1",
"protein_id": "ENSP00000507894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684483.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "n.*863T>A",
"hgvs_p": null,
"transcript": "ENST00000682162.1",
"protein_id": "ENSP00000508203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682162.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"hgvs_c": "n.*416T>A",
"hgvs_p": null,
"transcript": "ENST00000684483.1",
"protein_id": "ENSP00000507894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684483.1"
}
],
"gene_symbol": "FH",
"gene_hgnc_id": 3700,
"dbsnp": "rs398123159",
"frequency_reference_population": 0.0000068407876,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684079,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.982953667640686,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.885,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.994,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.55,
"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": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PM1",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000143.4",
"gene_symbol": "FH",
"hgnc_id": 3700,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1020T>A",
"hgvs_p": "p.Asn340Lys"
}
],
"clinvar_disease": "FH-related disorder,Fumarase deficiency,Hereditary cancer-predisposing syndrome,Hereditary leiomyomatosis and renal cell cancer,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9 LP:2",
"phenotype_combined": "not provided|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|FH-related disorder|Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}