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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: 7-123557424-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=123557424&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 123557424,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005000.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met",
"transcript": "NM_005000.5",
"protein_id": "NP_004991.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 116,
"cds_start": 46,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355749.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005000.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met",
"transcript": "ENST00000355749.7",
"protein_id": "ENSP00000347988.2",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 116,
"cds_start": 46,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005000.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355749.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met",
"transcript": "ENST00000471770.5",
"protein_id": "ENSP00000417142.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 116,
"cds_start": 46,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471770.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.-335G>A",
"hgvs_p": null,
"transcript": "ENST00000676614.1",
"protein_id": "ENSP00000504474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.-124G>A",
"hgvs_p": null,
"transcript": "ENST00000676730.1",
"protein_id": "ENSP00000504122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676730.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.-335G>A",
"hgvs_p": null,
"transcript": "ENST00000677251.1",
"protein_id": "ENSP00000504636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677251.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.-126G>A",
"hgvs_p": null,
"transcript": "ENST00000677264.1",
"protein_id": "ENSP00000504280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.-335G>A",
"hgvs_p": null,
"transcript": "ENST00000677391.1",
"protein_id": "ENSP00000503732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677391.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.-126G>A",
"hgvs_p": null,
"transcript": "ENST00000679163.1",
"protein_id": "ENSP00000504320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679163.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met",
"transcript": "ENST00000678090.1",
"protein_id": "ENSP00000503587.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 145,
"cds_start": 46,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678090.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met",
"transcript": "ENST00000378795.9",
"protein_id": "ENSP00000368072.5",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 125,
"cds_start": 46,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378795.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met",
"transcript": "NM_001282420.3",
"protein_id": "NP_001269349.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 116,
"cds_start": 46,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282420.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Val13Met",
"transcript": "NM_001282421.3",
"protein_id": "NP_001269350.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 113,
"cds_start": 37,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282421.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met",
"transcript": "ENST00000944401.1",
"protein_id": "ENSP00000614460.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 112,
"cds_start": 46,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944401.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met",
"transcript": "ENST00000470123.2",
"protein_id": "ENSP00000418633.2",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 98,
"cds_start": 46,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470123.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met",
"transcript": "ENST00000897003.1",
"protein_id": "ENSP00000567062.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 94,
"cds_start": 46,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897003.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met",
"transcript": "ENST00000897004.1",
"protein_id": "ENSP00000567063.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 86,
"cds_start": 46,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897004.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Met",
"transcript": "ENST00000944402.1",
"protein_id": "ENSP00000614461.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 82,
"cds_start": 61,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944402.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met",
"transcript": "NM_001282422.3",
"protein_id": "NP_001269351.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 77,
"cds_start": 46,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282422.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met",
"transcript": "ENST00000618945.4",
"protein_id": "ENSP00000481232.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 77,
"cds_start": 46,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618945.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.-335G>A",
"hgvs_p": null,
"transcript": "ENST00000676614.1",
"protein_id": "ENSP00000504474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"hgvs_c": "c.-124G>A",
"hgvs_p": null,
"transcript": "ENST00000676730.1",
"protein_id": "ENSP00000504122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"transcript": "ENST00000677306.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000677306.1"
}
],
"gene_symbol": "NDUFA5",
"gene_hgnc_id": 7688,
"dbsnp": "rs199642312",
"frequency_reference_population": 0.000009299096,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000821496,
"gnomad_genomes_af": 0.0000196967,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29899516701698303,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.609,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4285,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.98,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_005000.5",
"gene_symbol": "NDUFA5",
"hgnc_id": 7688,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Val16Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}