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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: 16-75627947-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75627947&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 75627947,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001130089.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Asn581Thr",
"transcript": "NM_005548.3",
"protein_id": "NP_005539.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 597,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302445.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005548.3"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Asn581Thr",
"transcript": "ENST00000302445.8",
"protein_id": "ENSP00000303043.3",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 597,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005548.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302445.8"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1826A>C",
"hgvs_p": "p.Asn609Thr",
"transcript": "ENST00000319410.9",
"protein_id": "ENSP00000325448.5",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 625,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319410.9"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1856A>C",
"hgvs_p": "p.Asn619Thr",
"transcript": "ENST00000898534.1",
"protein_id": "ENSP00000568593.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 635,
"cds_start": 1856,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898534.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1850A>C",
"hgvs_p": "p.Asn617Thr",
"transcript": "ENST00000958942.1",
"protein_id": "ENSP00000629001.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 633,
"cds_start": 1850,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958942.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1826A>C",
"hgvs_p": "p.Asn609Thr",
"transcript": "NM_001130089.2",
"protein_id": "NP_001123561.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 625,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130089.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1745A>C",
"hgvs_p": "p.Asn582Thr",
"transcript": "ENST00000898535.1",
"protein_id": "ENSP00000568594.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 598,
"cds_start": 1745,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898535.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Asn581Thr",
"transcript": "ENST00000912463.1",
"protein_id": "ENSP00000582522.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 597,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912463.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1736A>C",
"hgvs_p": "p.Asn579Thr",
"transcript": "ENST00000912464.1",
"protein_id": "ENSP00000582523.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 595,
"cds_start": 1736,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912464.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1622A>C",
"hgvs_p": "p.Asn541Thr",
"transcript": "ENST00000898537.1",
"protein_id": "ENSP00000568596.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 557,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898537.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1274A>C",
"hgvs_p": "p.Asn425Thr",
"transcript": "NM_001378148.1",
"protein_id": "NP_001365077.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 441,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378148.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1049A>C",
"hgvs_p": "p.Asn350Thr",
"transcript": "ENST00000898536.1",
"protein_id": "ENSP00000568595.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 366,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898536.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.278A>C",
"hgvs_p": "p.Asn93Thr",
"transcript": "ENST00000912465.1",
"protein_id": "ENSP00000582524.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 109,
"cds_start": 278,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912465.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.189A>C",
"hgvs_p": "p.Glu63Asp",
"transcript": "ENST00000568378.5",
"protein_id": "ENSP00000454512.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 67,
"cds_start": 189,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568378.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.*1285A>C",
"hgvs_p": null,
"transcript": "ENST00000564578.5",
"protein_id": "ENSP00000455818.1",
"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": "ENST00000564578.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.488A>C",
"hgvs_p": null,
"transcript": "ENST00000569298.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000569298.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.*1285A>C",
"hgvs_p": null,
"transcript": "ENST00000564578.5",
"protein_id": "ENSP00000455818.1",
"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": "ENST00000564578.5"
}
],
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"dbsnp": "rs117561624",
"frequency_reference_population": 0.00003225362,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000328798,
"gnomad_genomes_af": 0.0000262536,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03375813364982605,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.0558,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.027,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001130089.2",
"gene_symbol": "KARS1",
"hgnc_id": 6215,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1826A>C",
"hgvs_p": "p.Asn609Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}