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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: 7-107919079-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107919079&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 107919079,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000108.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Arg482Gly",
"transcript": "NM_000108.5",
"protein_id": "NP_000099.2",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 509,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000205402.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000108.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Arg482Gly",
"transcript": "ENST00000205402.10",
"protein_id": "ENSP00000205402.3",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 509,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000108.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000205402.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1426A>G",
"hgvs_p": "p.Arg476Gly",
"transcript": "ENST00000880448.1",
"protein_id": "ENSP00000550507.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 503,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880448.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1420A>G",
"hgvs_p": "p.Arg474Gly",
"transcript": "ENST00000880447.1",
"protein_id": "ENSP00000550506.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 501,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880447.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1408A>G",
"hgvs_p": "p.Arg470Gly",
"transcript": "ENST00000880450.1",
"protein_id": "ENSP00000550509.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 497,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880450.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1378A>G",
"hgvs_p": "p.Arg460Gly",
"transcript": "ENST00000924909.1",
"protein_id": "ENSP00000594968.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 487,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924909.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1375A>G",
"hgvs_p": "p.Arg459Gly",
"transcript": "NM_001289751.1",
"protein_id": "NP_001276680.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 486,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289751.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1375A>G",
"hgvs_p": "p.Arg459Gly",
"transcript": "ENST00000440410.5",
"protein_id": "ENSP00000417016.1",
"transcript_support_level": 2,
"aa_start": 459,
"aa_end": null,
"aa_length": 486,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440410.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Arg453Gly",
"transcript": "ENST00000880449.1",
"protein_id": "ENSP00000550508.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 480,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880449.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Arg442Gly",
"transcript": "ENST00000880452.1",
"protein_id": "ENSP00000550511.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 469,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880452.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1300A>G",
"hgvs_p": "p.Arg434Gly",
"transcript": "NM_001289752.1",
"protein_id": "NP_001276681.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 461,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289752.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1300A>G",
"hgvs_p": "p.Arg434Gly",
"transcript": "ENST00000437604.6",
"protein_id": "ENSP00000387542.2",
"transcript_support_level": 2,
"aa_start": 434,
"aa_end": null,
"aa_length": 461,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437604.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1273A>G",
"hgvs_p": "p.Arg425Gly",
"transcript": "ENST00000924908.1",
"protein_id": "ENSP00000594967.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 452,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924908.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1216A>G",
"hgvs_p": "p.Arg406Gly",
"transcript": "ENST00000957323.1",
"protein_id": "ENSP00000627382.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 433,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957323.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1198A>G",
"hgvs_p": "p.Arg400Gly",
"transcript": "ENST00000924910.1",
"protein_id": "ENSP00000594969.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 427,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924910.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1147A>G",
"hgvs_p": "p.Arg383Gly",
"transcript": "NM_001289750.1",
"protein_id": "NP_001276679.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 410,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289750.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1375-115A>G",
"hgvs_p": null,
"transcript": "ENST00000880451.1",
"protein_id": "ENSP00000550510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": null,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880451.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.*1118A>G",
"hgvs_p": null,
"transcript": "ENST00000415325.5",
"protein_id": "ENSP00000402593.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000415325.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.1444A>G",
"hgvs_p": null,
"transcript": "ENST00000417551.5",
"protein_id": "ENSP00000390667.1",
"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": "ENST00000417551.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.*1118A>G",
"hgvs_p": null,
"transcript": "ENST00000415325.5",
"protein_id": "ENSP00000402593.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000415325.5"
}
],
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"dbsnp": "rs397514650",
"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": 0.980250358581543,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.803,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9206,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.969,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000108.5",
"gene_symbol": "DLD",
"hgnc_id": 2898,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Arg482Gly"
}
],
"clinvar_disease": "Pyruvate dehydrogenase E3 deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Pyruvate dehydrogenase E3 deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}