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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: 19-45472800-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45472800&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45472800,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006732.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.805A>G",
"hgvs_p": "p.Ser269Gly",
"transcript": "NM_006732.3",
"protein_id": "NP_006723.2",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 338,
"cds_start": 805,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000353609.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006732.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.805A>G",
"hgvs_p": "p.Ser269Gly",
"transcript": "ENST00000353609.8",
"protein_id": "ENSP00000245919.3",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 338,
"cds_start": 805,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006732.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353609.8"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Ser233Gly",
"transcript": "ENST00000417353.6",
"protein_id": "ENSP00000407207.1",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 302,
"cds_start": 697,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417353.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Ser230Gly",
"transcript": "ENST00000591858.5",
"protein_id": "ENSP00000466530.1",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 299,
"cds_start": 688,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591858.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Ser220Gly",
"transcript": "ENST00000586615.5",
"protein_id": "ENSP00000468207.1",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 289,
"cds_start": 658,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586615.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Ser194Gly",
"transcript": "ENST00000585836.5",
"protein_id": "ENSP00000467497.1",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 263,
"cds_start": 580,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585836.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.376A>G",
"hgvs_p": "p.Ser126Gly",
"transcript": "ENST00000443841.6",
"protein_id": "ENSP00000414177.1",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 195,
"cds_start": 376,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443841.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "n.473A>G",
"hgvs_p": null,
"transcript": "ENST00000587358.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000587358.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Ser233Gly",
"transcript": "NM_001114171.2",
"protein_id": "NP_001107643.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 302,
"cds_start": 697,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114171.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.-8+5936T>C",
"hgvs_p": null,
"transcript": "ENST00000899224.1",
"protein_id": "ENSP00000569283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": null,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899224.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.-8+5936T>C",
"hgvs_p": null,
"transcript": "ENST00000899225.1",
"protein_id": "ENSP00000569284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": null,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899225.1"
},
{
"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": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.712-47A>G",
"hgvs_p": null,
"transcript": "NM_001411069.1",
"protein_id": "NP_001397998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": null,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411069.1"
},
{
"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": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.712-47A>G",
"hgvs_p": null,
"transcript": "ENST00000592436.5",
"protein_id": "ENSP00000465552.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": null,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592436.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.-8+5936T>C",
"hgvs_p": null,
"transcript": "ENST00000423698.6",
"protein_id": "ENSP00000394875.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": null,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423698.6"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.565-47A>G",
"hgvs_p": null,
"transcript": "ENST00000592811.5",
"protein_id": "ENSP00000468482.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592811.5"
},
{
"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": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.604-47A>G",
"hgvs_p": null,
"transcript": "XM_047438550.1",
"protein_id": "XP_047294506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438550.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSB",
"gene_hgnc_id": 3797,
"hgvs_c": "c.*247A>G",
"hgvs_p": null,
"transcript": "ENST00000589593.1",
"protein_id": "ENSP00000465528.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589593.1"
}
],
"gene_symbol": "FOSB",
"gene_hgnc_id": 3797,
"dbsnp": "rs745962748",
"frequency_reference_population": 0.000012313098,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000123131,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03505760431289673,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.09,
"revel_prediction": "Benign",
"alphamissense_score": 0.0676,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.262,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006732.3",
"gene_symbol": "FOSB",
"hgnc_id": 3797,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.805A>G",
"hgvs_p": "p.Ser269Gly"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000423698.6",
"gene_symbol": "ERCC1",
"hgnc_id": 3433,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-8+5936T>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
}