← Back to variant description
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: 17-44915054-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44915054&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44915054,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000588735.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "NM_002055.5",
"protein_id": "NP_002046.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 432,
"cds_start": 433,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 5501,
"mane_select": "ENST00000588735.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "ENST00000588735.3",
"protein_id": "ENSP00000466598.2",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 432,
"cds_start": 433,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 5501,
"mane_select": "NM_002055.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.446G>A",
"hgvs_p": null,
"transcript": "ENST00000591327.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "ENST00000639277.1",
"protein_id": "ENSP00000492432.1",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 505,
"cds_start": 433,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "NM_001363846.2",
"protein_id": "NP_001350775.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 472,
"cds_start": 433,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "ENST00000253408.11",
"protein_id": "ENSP00000253408.5",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 472,
"cds_start": 433,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "NM_001242376.3",
"protein_id": "NP_001229305.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 438,
"cds_start": 433,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "ENST00000638281.1",
"protein_id": "ENSP00000491088.1",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 438,
"cds_start": 433,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "NM_001131019.3",
"protein_id": "NP_001124491.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 431,
"cds_start": 433,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "ENST00000435360.8",
"protein_id": "ENSP00000403962.1",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 431,
"cds_start": 433,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "ENST00000586793.6",
"protein_id": "ENSP00000468500.2",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 333,
"cds_start": 433,
"cds_end": null,
"cds_length": 1004,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Ala30Thr",
"transcript": "ENST00000638618.1",
"protein_id": "ENSP00000492832.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 326,
"cds_start": 88,
"cds_end": null,
"cds_length": 981,
"cdna_start": 88,
"cdna_end": null,
"cdna_length": 989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "ENST00000588316.1",
"protein_id": "ENSP00000465629.1",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 260,
"cds_start": 433,
"cds_end": null,
"cds_length": 785,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "ENST00000592320.6",
"protein_id": "ENSP00000465320.1",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 247,
"cds_start": 433,
"cds_end": null,
"cds_length": 745,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr",
"transcript": "ENST00000588037.1",
"protein_id": "ENSP00000466163.1",
"transcript_support_level": 3,
"aa_start": 145,
"aa_end": null,
"aa_length": 188,
"cds_start": 433,
"cds_end": null,
"cds_length": 568,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.433G>A",
"hgvs_p": null,
"transcript": "ENST00000376990.8",
"protein_id": "ENSP00000366189.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.*77G>A",
"hgvs_p": null,
"transcript": "ENST00000585728.5",
"protein_id": "ENSP00000465208.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.25G>A",
"hgvs_p": null,
"transcript": "ENST00000586127.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.447G>A",
"hgvs_p": null,
"transcript": "ENST00000640552.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.*77G>A",
"hgvs_p": null,
"transcript": "ENST00000585728.5",
"protein_id": "ENSP00000465208.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.-272+763G>A",
"hgvs_p": null,
"transcript": "ENST00000588957.5",
"protein_id": "ENSP00000465565.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": -4,
"cds_end": null,
"cds_length": 172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"dbsnp": "rs141400812",
"frequency_reference_population": 0.0004948653,
"hom_count_reference_population": 0,
"allele_count_reference_population": 798,
"gnomad_exomes_af": 0.000479365,
"gnomad_genomes_af": 0.000643492,
"gnomad_exomes_ac": 700,
"gnomad_genomes_ac": 98,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011662930250167847,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.228,
"revel_prediction": "Benign",
"alphamissense_score": 0.0765,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.393,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000588735.3",
"gene_symbol": "GFAP",
"hgnc_id": 4235,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Ala145Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}