← 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: 1-37612793-CTTG-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=37612793&ref=CTTG&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "RSPO1",
"hgnc_id": 21679,
"hgvs_c": "c.751_752delCA",
"hgvs_p": "p.Gln251fs",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001038633.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": "Q",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 792,
"cds_start": 751,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001242908.2",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.751_752delCA",
"hgvs_p": "p.Gln251fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356545.7",
"protein_coding": true,
"protein_id": "NP_001229837.1",
"strand": false,
"transcript": "NM_001242908.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": "Q",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 792,
"cds_start": 751,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000356545.7",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.751_752delCA",
"hgvs_p": "p.Gln251fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001242908.2",
"protein_coding": true,
"protein_id": "ENSP00000348944.2",
"strand": false,
"transcript": "ENST00000356545.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": "Q",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2320,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 792,
"cds_start": 751,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000401068.1",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.751_752delCA",
"hgvs_p": "p.Gln251fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383846.1",
"strand": false,
"transcript": "ENST00000401068.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 200,
"aa_ref": "Q",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 603,
"cds_start": 562,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000612451.4",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.562_563delCA",
"hgvs_p": "p.Gln188fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479832.1",
"strand": false,
"transcript": "ENST00000612451.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 275,
"aa_ref": "Q",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2898,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 828,
"cds_start": 787,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866283.1",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.787_788delCA",
"hgvs_p": "p.Gln263fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536342.1",
"strand": false,
"transcript": "ENST00000866283.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": "Q",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3058,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 792,
"cds_start": 751,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001038633.4",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.751_752delCA",
"hgvs_p": "p.Gln251fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001033722.1",
"strand": false,
"transcript": "NM_001038633.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": "Q",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 792,
"cds_start": 751,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866279.1",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.751_752delCA",
"hgvs_p": "p.Gln251fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536338.1",
"strand": false,
"transcript": "ENST00000866279.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": "Q",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 792,
"cds_start": 751,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000866280.1",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.751_752delCA",
"hgvs_p": "p.Gln251fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536339.1",
"strand": false,
"transcript": "ENST00000866280.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": "Q",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 792,
"cds_start": 751,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866281.1",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.751_752delCA",
"hgvs_p": "p.Gln251fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536340.1",
"strand": false,
"transcript": "ENST00000866281.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": "Q",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3607,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 792,
"cds_start": 751,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866282.1",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.751_752delCA",
"hgvs_p": "p.Gln251fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536341.1",
"strand": false,
"transcript": "ENST00000866282.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 236,
"aa_ref": "Q",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 711,
"cds_start": 670,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001242909.2",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.670_671delCA",
"hgvs_p": "p.Gln224fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229838.1",
"strand": false,
"transcript": "NM_001242909.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 236,
"aa_ref": "Q",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 886,
"cds_end": null,
"cds_length": 711,
"cds_start": 670,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000615459.4",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.670_671delCA",
"hgvs_p": "p.Gln224fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481178.1",
"strand": false,
"transcript": "ENST00000615459.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 212,
"aa_ref": "Q",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 639,
"cds_start": 598,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000967724.1",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.598_599delCA",
"hgvs_p": "p.Gln200fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637783.1",
"strand": false,
"transcript": "ENST00000967724.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 200,
"aa_ref": "Q",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 603,
"cds_start": 562,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001242910.2",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.562_563delCA",
"hgvs_p": "p.Gln188fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229839.1",
"strand": false,
"transcript": "NM_001242910.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 150,
"aa_ref": "Q",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 453,
"cds_start": 412,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000866284.1",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.412_413delCA",
"hgvs_p": "p.Gln138fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536343.1",
"strand": false,
"transcript": "ENST00000866284.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": "Q",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 1367,
"cds_end": null,
"cds_length": 792,
"cds_start": 751,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_006710583.5",
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"hgvs_c": "c.751_752delCA",
"hgvs_p": "p.Gln251fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006710646.1",
"strand": false,
"transcript": "XM_006710583.5",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "frameshift_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 21679,
"gene_symbol": "RSPO1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.575,
"pos": 37612794,
"ref": "TTG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001038633.4"
}
]
}