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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: 14-75005867-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75005867&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75005867,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_014239.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B2",
"gene_hgnc_id": 3258,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Gly200Ala",
"transcript": "NM_014239.4",
"protein_id": "NP_055054.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 351,
"cds_start": 599,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000266126.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014239.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B2",
"gene_hgnc_id": 3258,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Gly200Ala",
"transcript": "ENST00000266126.10",
"protein_id": "ENSP00000266126.5",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 351,
"cds_start": 599,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014239.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266126.10"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B2",
"gene_hgnc_id": 3258,
"hgvs_c": "c.596G>C",
"hgvs_p": "p.Gly199Ala",
"transcript": "ENST00000932124.1",
"protein_id": "ENSP00000602183.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 350,
"cds_start": 596,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932124.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B2",
"gene_hgnc_id": 3258,
"hgvs_c": "c.491G>C",
"hgvs_p": "p.Gly164Ala",
"transcript": "ENST00000932126.1",
"protein_id": "ENSP00000602185.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 491,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932126.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B2",
"gene_hgnc_id": 3258,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Gly200Ala",
"transcript": "ENST00000932127.1",
"protein_id": "ENSP00000602186.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 305,
"cds_start": 599,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932127.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF2B2",
"gene_hgnc_id": 3258,
"hgvs_c": "c.406-41G>C",
"hgvs_p": null,
"transcript": "ENST00000873642.1",
"protein_id": "ENSP00000543701.1",
"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": "ENST00000873642.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EIF2B2",
"gene_hgnc_id": 3258,
"hgvs_c": "c.489+1075G>C",
"hgvs_p": null,
"transcript": "ENST00000932125.1",
"protein_id": "ENSP00000602184.1",
"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": "ENST00000932125.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B2",
"gene_hgnc_id": 3258,
"hgvs_c": "n.597G>C",
"hgvs_p": null,
"transcript": "ENST00000553401.5",
"protein_id": "ENSP00000451681.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000553401.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258646",
"gene_hgnc_id": null,
"hgvs_c": "n.287-946C>G",
"hgvs_p": null,
"transcript": "ENST00000554430.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000554430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EIF2B2",
"gene_hgnc_id": 3258,
"hgvs_c": "n.598-30G>C",
"hgvs_p": null,
"transcript": "ENST00000556028.5",
"protein_id": "ENSP00000452311.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000556028.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "EIF2B2",
"gene_hgnc_id": 3258,
"hgvs_c": "c.-38G>C",
"hgvs_p": null,
"transcript": "ENST00000554748.2",
"protein_id": "ENSP00000452582.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": null,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554748.2"
}
],
"gene_symbol": "EIF2B2",
"gene_hgnc_id": 3258,
"dbsnp": "rs113994012",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9639045000076294,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8479999899864197,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.931,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8601,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.622,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.25,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.991699770590992,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_014239.4",
"gene_symbol": "EIF2B2",
"hgnc_id": 3258,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Gly200Ala"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000554430.1",
"gene_symbol": "ENSG00000258646",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.287-946C>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
}