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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: 7-76393675-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=76393675&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 76393675,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_080744.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"transcript": "NM_080744.2",
"protein_id": "NP_542782.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 575,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000275560.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080744.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"transcript": "ENST00000275560.4",
"protein_id": "ENSP00000275560.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 575,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080744.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275560.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Gly343Ser",
"transcript": "ENST00000938541.1",
"protein_id": "ENSP00000608600.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 563,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938541.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Ser",
"transcript": "ENST00000938545.1",
"protein_id": "ENSP00000608604.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 502,
"cds_start": 844,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938545.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Gly270Ser",
"transcript": "ENST00000938543.1",
"protein_id": "ENSP00000608602.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 490,
"cds_start": 808,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938543.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Ser",
"transcript": "ENST00000938540.1",
"protein_id": "ENSP00000608599.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 473,
"cds_start": 757,
"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": "ENST00000938540.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Gly251Ser",
"transcript": "ENST00000938542.1",
"protein_id": "ENSP00000608601.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 471,
"cds_start": 751,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938542.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Ser",
"transcript": "ENST00000938539.1",
"protein_id": "ENSP00000608598.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 461,
"cds_start": 721,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938539.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Gly384Ser",
"transcript": "XM_024446664.2",
"protein_id": "XP_024302432.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 604,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446664.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Gly186Ser",
"transcript": "XM_017011750.2",
"protein_id": "XP_016867239.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 406,
"cds_start": 556,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011750.2"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "c.527-1634G>A",
"hgvs_p": null,
"transcript": "ENST00000938544.1",
"protein_id": "ENSP00000608603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"hgvs_c": "n.-185G>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000492979.2"
}
],
"gene_symbol": "SSC4D",
"gene_hgnc_id": 14461,
"dbsnp": "rs1206313218",
"frequency_reference_population": 0.0000031301745,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000313017,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9705121517181396,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.83,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9609,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.747,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_080744.2",
"gene_symbol": "SSC4D",
"hgnc_id": 14461,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}