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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: 3-112123754-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=112123754&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 112123754,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001190259.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.238T>G",
"hgvs_p": "p.Tyr80Asp",
"transcript": "NM_152785.5",
"protein_id": "NP_689998.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 178,
"cds_start": 238,
"cds_end": null,
"cds_length": 537,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": "ENST00000308910.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152785.5"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.238T>G",
"hgvs_p": "p.Tyr80Asp",
"transcript": "ENST00000308910.9",
"protein_id": "ENSP00000309487.4",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 178,
"cds_start": 238,
"cds_end": null,
"cds_length": 537,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": "NM_152785.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308910.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "C3orf52",
"gene_hgnc_id": 26255,
"hgvs_c": "n.950+4192A>C",
"hgvs_p": null,
"transcript": "ENST00000467942.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 3722,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000467942.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Tyr82Asp",
"transcript": "NM_001190259.2",
"protein_id": "NP_001177188.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 180,
"cds_start": 244,
"cds_end": null,
"cds_length": 543,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190259.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Tyr82Asp",
"transcript": "ENST00000484193.5",
"protein_id": "ENSP00000419485.1",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 180,
"cds_start": 244,
"cds_end": null,
"cds_length": 543,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484193.5"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.193T>G",
"hgvs_p": "p.Tyr65Asp",
"transcript": "NM_001190260.2",
"protein_id": "NP_001177189.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 163,
"cds_start": 193,
"cds_end": null,
"cds_length": 492,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 3236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190260.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.193T>G",
"hgvs_p": "p.Tyr65Asp",
"transcript": "ENST00000460387.6",
"protein_id": "ENSP00000420603.2",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 163,
"cds_start": 193,
"cds_end": null,
"cds_length": 492,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460387.6"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.187T>G",
"hgvs_p": "p.Tyr63Asp",
"transcript": "ENST00000487901.2",
"protein_id": "ENSP00000418849.2",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 161,
"cds_start": 187,
"cds_end": null,
"cds_length": 486,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487901.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.187T>G",
"hgvs_p": "p.Tyr63Asp",
"transcript": "ENST00000488580.6",
"protein_id": "ENSP00000419913.2",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 161,
"cds_start": 187,
"cds_end": null,
"cds_length": 486,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488580.6"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.247T>G",
"hgvs_p": "p.Tyr83Asp",
"transcript": "XM_011512627.4",
"protein_id": "XP_011510929.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 181,
"cds_start": 247,
"cds_end": null,
"cds_length": 546,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512627.4"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.241T>G",
"hgvs_p": "p.Tyr81Asp",
"transcript": "XM_024453437.2",
"protein_id": "XP_024309205.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 179,
"cds_start": 241,
"cds_end": null,
"cds_length": 540,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453437.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.226T>G",
"hgvs_p": "p.Tyr76Asp",
"transcript": "XM_024453438.2",
"protein_id": "XP_024309206.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 174,
"cds_start": 226,
"cds_end": null,
"cds_length": 525,
"cdna_start": 2766,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453438.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.190T>G",
"hgvs_p": "p.Tyr64Asp",
"transcript": "XM_011512629.3",
"protein_id": "XP_011510931.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 162,
"cds_start": 190,
"cds_end": null,
"cds_length": 489,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512629.3"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "c.190T>G",
"hgvs_p": "p.Tyr64Asp",
"transcript": "XM_011512630.3",
"protein_id": "XP_011510932.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 162,
"cds_start": 190,
"cds_end": null,
"cds_length": 489,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512630.3"
},
{
"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": "C3orf52",
"gene_hgnc_id": 26255,
"hgvs_c": "c.*46+4192A>C",
"hgvs_p": null,
"transcript": "ENST00000480282.5",
"protein_id": "ENSP00000420539.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480282.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "n.*261T>G",
"hgvs_p": null,
"transcript": "ENST00000470085.5",
"protein_id": "ENSP00000417322.1",
"transcript_support_level": 2,
"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": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470085.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "n.*232T>G",
"hgvs_p": null,
"transcript": "ENST00000495418.5",
"protein_id": "ENSP00000418558.1",
"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": 871,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495418.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "n.*261T>G",
"hgvs_p": null,
"transcript": "ENST00000470085.5",
"protein_id": "ENSP00000417322.1",
"transcript_support_level": 2,
"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": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470085.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"hgvs_c": "n.*232T>G",
"hgvs_p": null,
"transcript": "ENST00000495418.5",
"protein_id": "ENSP00000418558.1",
"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": 871,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495418.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "C3orf52",
"gene_hgnc_id": 26255,
"hgvs_c": "n.988+4192A>C",
"hgvs_p": null,
"transcript": "XR_007095726.1",
"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": 9137,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095726.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "C3orf52",
"gene_hgnc_id": 26255,
"hgvs_c": "n.1027+4192A>C",
"hgvs_p": null,
"transcript": "XR_924171.4",
"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": 9176,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_924171.4"
}
],
"gene_symbol": "GCSAM",
"gene_hgnc_id": 20253,
"dbsnp": "rs750227000",
"frequency_reference_population": 0.0000049601267,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000479229,
"gnomad_genomes_af": 0.00000657108,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09788176417350769,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.1292,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.886,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001190259.2",
"gene_symbol": "GCSAM",
"hgnc_id": 20253,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.244T>G",
"hgvs_p": "p.Tyr82Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000480282.5",
"gene_symbol": "C3orf52",
"hgnc_id": 26255,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*46+4192A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}