← 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: 7-76390105-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=76390105&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 76390105,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_080744.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1682A>G",
"hgvs_p": "p.Asn561Ser",
"transcript": "NM_080744.2",
"protein_id": "NP_542782.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 575,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": "ENST00000275560.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080744.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1682A>G",
"hgvs_p": "p.Asn561Ser",
"transcript": "ENST00000275560.4",
"protein_id": "ENSP00000275560.3",
"transcript_support_level": 1,
"aa_start": 561,
"aa_end": null,
"aa_length": 575,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": "NM_080744.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275560.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1646A>G",
"hgvs_p": "p.Asn549Ser",
"transcript": "ENST00000938541.1",
"protein_id": "ENSP00000608600.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 563,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938541.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Asn488Ser",
"transcript": "ENST00000938545.1",
"protein_id": "ENSP00000608604.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 502,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938545.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1427A>G",
"hgvs_p": "p.Asn476Ser",
"transcript": "ENST00000938543.1",
"protein_id": "ENSP00000608602.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 490,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938543.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1376A>G",
"hgvs_p": "p.Asn459Ser",
"transcript": "ENST00000938540.1",
"protein_id": "ENSP00000608599.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 473,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938540.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"transcript": "ENST00000938542.1",
"protein_id": "ENSP00000608601.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 471,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938542.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1340A>G",
"hgvs_p": "p.Asn447Ser",
"transcript": "ENST00000938539.1",
"protein_id": "ENSP00000608598.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 461,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938539.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.875A>G",
"hgvs_p": "p.Asn292Ser",
"transcript": "ENST00000938544.1",
"protein_id": "ENSP00000608603.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 306,
"cds_start": 875,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938544.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Asn590Ser",
"transcript": "XM_024446664.2",
"protein_id": "XP_024302432.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 604,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446664.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1175A>G",
"hgvs_p": "p.Asn392Ser",
"transcript": "XM_017011750.2",
"protein_id": "XP_016867239.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 406,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011750.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "n.453A>G",
"hgvs_p": null,
"transcript": "ENST00000492979.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1224,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000492979.2"
}
],
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"dbsnp": "rs1804460883",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5269577503204346,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.45,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5608,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.207,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_080744.2",
"gene_symbol": "SSC4D",
"hgnc_id": 14461,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1682A>G",
"hgvs_p": "p.Asn561Ser"
}
],
"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
}