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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: 1-241504239-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=241504239&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 241504239,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000143.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"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.911C>G",
"hgvs_p": "p.Pro304Arg",
"transcript": "NM_000143.4",
"protein_id": "NP_000134.2",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 510,
"cds_start": 911,
"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": "P",
"aa_alt": "R",
"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.911C>G",
"hgvs_p": "p.Pro304Arg",
"transcript": "ENST00000366560.4",
"protein_id": "ENSP00000355518.4",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 510,
"cds_start": 911,
"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": "P",
"aa_alt": "R",
"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.908C>G",
"hgvs_p": "p.Pro303Arg",
"transcript": "ENST00000958409.1",
"protein_id": "ENSP00000628468.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 509,
"cds_start": 908,
"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": "P",
"aa_alt": "R",
"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.863C>G",
"hgvs_p": "p.Pro288Arg",
"transcript": "ENST00000932939.1",
"protein_id": "ENSP00000602998.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 494,
"cds_start": 863,
"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": "P",
"aa_alt": "R",
"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.911C>G",
"hgvs_p": "p.Pro304Arg",
"transcript": "ENST00000683521.1",
"protein_id": "ENSP00000506864.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 480,
"cds_start": 911,
"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": "P",
"aa_alt": "R",
"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.800C>G",
"hgvs_p": "p.Pro267Arg",
"transcript": "ENST00000865387.1",
"protein_id": "ENSP00000535446.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 473,
"cds_start": 800,
"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": "P",
"aa_alt": "R",
"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.776C>G",
"hgvs_p": "p.Pro259Arg",
"transcript": "ENST00000865385.1",
"protein_id": "ENSP00000535444.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 465,
"cds_start": 776,
"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": "P",
"aa_alt": "R",
"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.911C>G",
"hgvs_p": "p.Pro304Arg",
"transcript": "ENST00000865388.1",
"protein_id": "ENSP00000535447.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 452,
"cds_start": 911,
"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": "P",
"aa_alt": "R",
"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.734C>G",
"hgvs_p": "p.Pro245Arg",
"transcript": "ENST00000865386.1",
"protein_id": "ENSP00000535445.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 451,
"cds_start": 734,
"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": "P",
"aa_alt": "R",
"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.728C>G",
"hgvs_p": "p.Pro243Arg",
"transcript": "ENST00000865389.1",
"protein_id": "ENSP00000535448.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 449,
"cds_start": 728,
"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": "P",
"aa_alt": "R",
"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.623C>G",
"hgvs_p": "p.Pro208Arg",
"transcript": "ENST00000958407.1",
"protein_id": "ENSP00000628466.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 414,
"cds_start": 623,
"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": "P",
"aa_alt": "R",
"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.551C>G",
"hgvs_p": "p.Pro184Arg",
"transcript": "ENST00000865384.1",
"protein_id": "ENSP00000535443.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 390,
"cds_start": 551,
"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": "P",
"aa_alt": "R",
"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.305C>G",
"hgvs_p": "p.Pro102Arg",
"transcript": "ENST00000958408.1",
"protein_id": "ENSP00000628467.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 308,
"cds_start": 305,
"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.905-144C>G",
"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.905-1669C>G",
"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.1414C>G",
"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.*754C>G",
"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.988C>G",
"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.2126C>G",
"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.*307C>G",
"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.*754C>G",
"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.*307C>G",
"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": "rs200491078",
"frequency_reference_population": 0.00009356647,
"hom_count_reference_population": 3,
"allele_count_reference_population": 151,
"gnomad_exomes_af": 0.0000978283,
"gnomad_genomes_af": 0.0000526032,
"gnomad_exomes_ac": 143,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7771690487861633,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.967,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3073,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.525,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP2,PP3,BS1,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 8,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PP2",
"PP3",
"BS1",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000143.4",
"gene_symbol": "FH",
"hgnc_id": 3700,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.911C>G",
"hgvs_p": "p.Pro304Arg"
}
],
"clinvar_disease": "Fumarase deficiency,Hereditary cancer-predisposing syndrome,Hereditary leiomyomatosis and renal cell cancer,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "Fumarase deficiency|not provided|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}