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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: 19-34377572-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=34377572&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 34377572,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000356487.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "NM_000175.5",
"protein_id": "NP_000166.2",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 558,
"cds_start": 472,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": "ENST00000356487.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "ENST00000356487.11",
"protein_id": "ENSP00000348877.3",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 558,
"cds_start": 472,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": "NM_000175.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "NM_001289789.1",
"protein_id": "NP_001276718.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 597,
"cds_start": 589,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "NM_001440422.1",
"protein_id": "NP_001427351.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 597,
"cds_start": 589,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000415930.8",
"protein_id": "ENSP00000405573.3",
"transcript_support_level": 2,
"aa_start": 197,
"aa_end": null,
"aa_length": 597,
"cds_start": 589,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "NM_001329909.1",
"protein_id": "NP_001316838.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 558,
"cds_start": 472,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "NM_001329910.1",
"protein_id": "NP_001316839.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 558,
"cds_start": 472,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "NM_001329911.2",
"protein_id": "NP_001316840.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 549,
"cds_start": 472,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Gly120Ser",
"transcript": "ENST00000586425.2",
"protein_id": "ENSP00000467670.3",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 446,
"cds_start": 358,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Gly118Ser",
"transcript": "ENST00000591204.5",
"protein_id": "ENSP00000466851.2",
"transcript_support_level": 4,
"aa_start": 118,
"aa_end": null,
"aa_length": 161,
"cds_start": 352,
"cds_end": null,
"cds_length": 488,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "ENST00000590375.5",
"protein_id": "ENSP00000467221.1",
"transcript_support_level": 4,
"aa_start": 158,
"aa_end": null,
"aa_length": 158,
"cds_start": 472,
"cds_end": null,
"cds_length": 478,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "n.*546G>A",
"hgvs_p": null,
"transcript": "ENST00000592144.5",
"protein_id": "ENSP00000464798.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "n.982G>A",
"hgvs_p": null,
"transcript": "ENST00000643067.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "n.472G>A",
"hgvs_p": null,
"transcript": "ENST00000647446.1",
"protein_id": "ENSP00000495129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "n.*546G>A",
"hgvs_p": null,
"transcript": "ENST00000592144.5",
"protein_id": "ENSP00000464798.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.520-163G>A",
"hgvs_p": null,
"transcript": "NM_001184722.1",
"protein_id": "NP_001171651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": -4,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.520-163G>A",
"hgvs_p": null,
"transcript": "ENST00000588991.7",
"protein_id": "ENSP00000465858.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": -4,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.403-163G>A",
"hgvs_p": null,
"transcript": "NM_001289790.3",
"protein_id": "NP_001276719.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.403-1362G>A",
"hgvs_p": null,
"transcript": "ENST00000589399.6",
"protein_id": "ENSP00000468201.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.403-163G>A",
"hgvs_p": null,
"transcript": "ENST00000589640.5",
"protein_id": "ENSP00000467590.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"dbsnp": "rs387906524",
"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": 0.989086389541626,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.944,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9531,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.923,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.11,
"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": "ENST00000356487.11",
"gene_symbol": "GPI",
"hgnc_id": 4458,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}