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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: 17-75261951-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75261951&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75261951,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015971.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS7",
"gene_hgnc_id": 14499,
"hgvs_c": "c.51G>C",
"hgvs_p": "p.Leu17Phe",
"transcript": "NM_015971.4",
"protein_id": "NP_057055.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 242,
"cds_start": 51,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245539.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015971.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS7",
"gene_hgnc_id": 14499,
"hgvs_c": "c.51G>C",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000245539.11",
"protein_id": "ENSP00000245539.6",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 242,
"cds_start": 51,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015971.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245539.11"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS7",
"gene_hgnc_id": 14499,
"hgvs_c": "c.51G>C",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000886316.1",
"protein_id": "ENSP00000556375.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 242,
"cds_start": 51,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886316.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS7",
"gene_hgnc_id": 14499,
"hgvs_c": "c.51G>C",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000912532.1",
"protein_id": "ENSP00000582591.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 242,
"cds_start": 51,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912532.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS7",
"gene_hgnc_id": 14499,
"hgvs_c": "c.51G>C",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000941392.1",
"protein_id": "ENSP00000611451.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 242,
"cds_start": 51,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941392.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS7",
"gene_hgnc_id": 14499,
"hgvs_c": "c.51G>C",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000886317.1",
"protein_id": "ENSP00000556376.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 232,
"cds_start": 51,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886317.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS7",
"gene_hgnc_id": 14499,
"hgvs_c": "c.51G>C",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000579761.5",
"protein_id": "ENSP00000463263.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 183,
"cds_start": 51,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579761.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS7",
"gene_hgnc_id": 14499,
"hgvs_c": "c.-376G>C",
"hgvs_p": null,
"transcript": "ENST00000579002.5",
"protein_id": "ENSP00000463683.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": null,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579002.5"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.-177+331C>G",
"hgvs_p": null,
"transcript": "NM_001172703.3",
"protein_id": "NP_001166174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172703.3"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.-177+331C>G",
"hgvs_p": null,
"transcript": "ENST00000582717.5",
"protein_id": "ENSP00000462081.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582717.5"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.-177+331C>G",
"hgvs_p": null,
"transcript": "ENST00000582486.5",
"protein_id": "ENSP00000462629.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": null,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582486.5"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.-228+331C>G",
"hgvs_p": null,
"transcript": "NM_001172704.3",
"protein_id": "NP_001166175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172704.3"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.-228+331C>G",
"hgvs_p": null,
"transcript": "ENST00000578348.5",
"protein_id": "ENSP00000463288.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578348.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MRPS7",
"gene_hgnc_id": 14499,
"hgvs_c": "c.35+16G>C",
"hgvs_p": null,
"transcript": "ENST00000912533.1",
"protein_id": "ENSP00000582592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912533.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GGA3",
"gene_hgnc_id": 17079,
"hgvs_c": "c.-346+331C>G",
"hgvs_p": null,
"transcript": "ENST00000579743.2",
"protein_id": "ENSP00000481953.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 45,
"cds_start": null,
"cds_end": null,
"cds_length": 138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579743.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS7",
"gene_hgnc_id": 14499,
"hgvs_c": "n.-10G>C",
"hgvs_p": null,
"transcript": "ENST00000583407.1",
"protein_id": "ENSP00000462677.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000583407.1"
}
],
"gene_symbol": "MRPS7",
"gene_hgnc_id": 14499,
"dbsnp": "rs773305495",
"frequency_reference_population": 0.000031091087,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000315941,
"gnomad_genomes_af": 0.0000262798,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2334522008895874,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.0722,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.196,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015971.4",
"gene_symbol": "MRPS7",
"hgnc_id": 14499,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.51G>C",
"hgvs_p": "p.Leu17Phe"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001172703.3",
"gene_symbol": "GGA3",
"hgnc_id": 17079,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-177+331C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}