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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: 19-43508816-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43508816&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43508816,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014297.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.554T>G",
"hgvs_p": "p.Leu185Arg",
"transcript": "NM_014297.5",
"protein_id": "NP_055112.2",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 254,
"cds_start": 554,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292147.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014297.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.554T>G",
"hgvs_p": "p.Leu185Arg",
"transcript": "ENST00000292147.7",
"protein_id": "ENSP00000292147.1",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 254,
"cds_start": 554,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014297.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292147.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.554T>G",
"hgvs_p": "p.Leu185Arg",
"transcript": "ENST00000600651.5",
"protein_id": "ENSP00000469037.1",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 260,
"cds_start": 554,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600651.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.719T>G",
"hgvs_p": "p.Leu240Arg",
"transcript": "ENST00000880125.1",
"protein_id": "ENSP00000550184.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 309,
"cds_start": 719,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880125.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.647T>G",
"hgvs_p": "p.Leu216Arg",
"transcript": "ENST00000970449.1",
"protein_id": "ENSP00000640508.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 285,
"cds_start": 647,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970449.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.599T>G",
"hgvs_p": "p.Leu200Arg",
"transcript": "ENST00000930539.1",
"protein_id": "ENSP00000600598.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 269,
"cds_start": 599,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930539.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.554T>G",
"hgvs_p": "p.Leu185Arg",
"transcript": "ENST00000970450.1",
"protein_id": "ENSP00000640509.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 251,
"cds_start": 554,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970450.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.521T>G",
"hgvs_p": "p.Leu174Arg",
"transcript": "NM_001320867.2",
"protein_id": "NP_001307796.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 243,
"cds_start": 521,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320867.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.521T>G",
"hgvs_p": "p.Leu174Arg",
"transcript": "ENST00000880121.1",
"protein_id": "ENSP00000550180.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 243,
"cds_start": 521,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880121.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.275T>G",
"hgvs_p": "p.Leu92Arg",
"transcript": "ENST00000880122.1",
"protein_id": "ENSP00000550181.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 161,
"cds_start": 275,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880122.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.260T>G",
"hgvs_p": "p.Leu87Arg",
"transcript": "NM_001320869.2",
"protein_id": "NP_001307798.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 156,
"cds_start": 260,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320869.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.260T>G",
"hgvs_p": "p.Leu87Arg",
"transcript": "ENST00000880124.1",
"protein_id": "ENSP00000550183.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 156,
"cds_start": 260,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880124.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.185T>G",
"hgvs_p": "p.Leu62Arg",
"transcript": "NM_001320868.2",
"protein_id": "NP_001307797.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 131,
"cds_start": 185,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320868.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.473T>G",
"hgvs_p": "p.Leu158Arg",
"transcript": "XM_005258687.5",
"protein_id": "XP_005258744.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 227,
"cds_start": 473,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258687.5"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.506-756T>G",
"hgvs_p": null,
"transcript": "ENST00000880123.1",
"protein_id": "ENSP00000550182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880123.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.473-756T>G",
"hgvs_p": null,
"transcript": "ENST00000880126.1",
"protein_id": "ENSP00000550185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880126.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "c.227-756T>G",
"hgvs_p": null,
"transcript": "ENST00000930538.1",
"protein_id": "ENSP00000600597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": null,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930538.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "n.*117T>G",
"hgvs_p": null,
"transcript": "ENST00000594342.5",
"protein_id": "ENSP00000469652.1",
"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": "ENST00000594342.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "n.*117T>G",
"hgvs_p": null,
"transcript": "ENST00000598330.1",
"protein_id": "ENSP00000469219.1",
"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": "ENST00000598330.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "n.*117T>G",
"hgvs_p": null,
"transcript": "ENST00000594342.5",
"protein_id": "ENSP00000469652.1",
"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": "ENST00000594342.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"hgvs_c": "n.*117T>G",
"hgvs_p": null,
"transcript": "ENST00000598330.1",
"protein_id": "ENSP00000469219.1",
"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": "ENST00000598330.1"
}
],
"gene_symbol": "ETHE1",
"gene_hgnc_id": 23287,
"dbsnp": "rs387906987",
"frequency_reference_population": 0.000016159667,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000164744,
"gnomad_genomes_af": 0.0000131461,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9903267621994019,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.978,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8594,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.374,
"phylop100way_prediction": "Uncertain_significance",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_014297.5",
"gene_symbol": "ETHE1",
"hgnc_id": 23287,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.554T>G",
"hgvs_p": "p.Leu185Arg"
}
],
"clinvar_disease": "Ethylmalonic encephalopathy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 O:1",
"phenotype_combined": "Ethylmalonic encephalopathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}