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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: 8-132661611-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132661611&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132661611,
"ref": "A",
"alt": "C",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001321963.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.27T>G",
"hgvs_p": "p.Ile9Met",
"transcript": "NM_012472.6",
"protein_id": "NP_036604.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 466,
"cds_start": 27,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000620350.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012472.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.27T>G",
"hgvs_p": "p.Ile9Met",
"transcript": "ENST00000620350.5",
"protein_id": "ENSP00000484634.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 466,
"cds_start": 27,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012472.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620350.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.27T>G",
"hgvs_p": "p.Ile9Met",
"transcript": "ENST00000519595.5",
"protein_id": "ENSP00000429791.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 466,
"cds_start": 27,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519595.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.27T>G",
"hgvs_p": "p.Ile9Met",
"transcript": "ENST00000250173.5",
"protein_id": "ENSP00000250173.2",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 411,
"cds_start": 27,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250173.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.27T>G",
"hgvs_p": "p.Ile9Met",
"transcript": "ENST00000518642.5",
"protein_id": "ENSP00000428610.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 411,
"cds_start": 27,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518642.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.-334T>G",
"hgvs_p": null,
"transcript": "NM_001321963.2",
"protein_id": "NP_001308892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321963.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.-334T>G",
"hgvs_p": null,
"transcript": "NM_001321964.2",
"protein_id": "NP_001308893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321964.2"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.-647T>G",
"hgvs_p": null,
"transcript": "NM_001321965.2",
"protein_id": "NP_001308894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321965.2"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.-334T>G",
"hgvs_p": null,
"transcript": "NM_001321966.2",
"protein_id": "NP_001308895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321966.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.27T>G",
"hgvs_p": "p.Ile9Met",
"transcript": "ENST00000869719.1",
"protein_id": "ENSP00000539778.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 492,
"cds_start": 27,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869719.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.27T>G",
"hgvs_p": "p.Ile9Met",
"transcript": "ENST00000940685.1",
"protein_id": "ENSP00000610744.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 465,
"cds_start": 27,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940685.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.27T>G",
"hgvs_p": "p.Ile9Met",
"transcript": "NM_001321961.2",
"protein_id": "NP_001308890.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 446,
"cds_start": 27,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321961.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.27T>G",
"hgvs_p": "p.Ile9Met",
"transcript": "ENST00000869720.1",
"protein_id": "ENSP00000539779.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 446,
"cds_start": 27,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869720.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.27T>G",
"hgvs_p": "p.Ile9Met",
"transcript": "ENST00000940684.1",
"protein_id": "ENSP00000610743.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 445,
"cds_start": 27,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940684.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.45T>G",
"hgvs_p": "p.Ile15Met",
"transcript": "XM_006716538.4",
"protein_id": "XP_006716601.2",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 472,
"cds_start": 45,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716538.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.45T>G",
"hgvs_p": "p.Ile15Met",
"transcript": "XM_011516950.3",
"protein_id": "XP_011515252.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 452,
"cds_start": 45,
"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": "XM_011516950.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.45T>G",
"hgvs_p": "p.Ile15Met",
"transcript": "XM_047421656.1",
"protein_id": "XP_047277612.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 424,
"cds_start": 45,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421656.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.27T>G",
"hgvs_p": "p.Ile9Met",
"transcript": "XM_047421657.1",
"protein_id": "XP_047277613.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 418,
"cds_start": 27,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421657.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.45T>G",
"hgvs_p": "p.Ile15Met",
"transcript": "XM_047421658.1",
"protein_id": "XP_047277614.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 404,
"cds_start": 45,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421658.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.27T>G",
"hgvs_p": "p.Ile9Met",
"transcript": "XM_047421659.1",
"protein_id": "XP_047277615.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 398,
"cds_start": 27,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421659.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.-334T>G",
"hgvs_p": null,
"transcript": "NM_001321963.2",
"protein_id": "NP_001308892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321963.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.-334T>G",
"hgvs_p": null,
"transcript": "NM_001321964.2",
"protein_id": "NP_001308893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421660.1"
}
],
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"dbsnp": "rs200906172",
"frequency_reference_population": 0.00013383215,
"hom_count_reference_population": 0,
"allele_count_reference_population": 216,
"gnomad_exomes_af": 0.000138879,
"gnomad_genomes_af": 0.0000853836,
"gnomad_exomes_ac": 203,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38217154145240784,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.484,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5791,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.252,
"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": -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_001321963.2",
"gene_symbol": "DNAAF11",
"hgnc_id": 16725,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-334T>G",
"hgvs_p": null
}
],
"clinvar_disease": "Infertility disorder,Primary ciliary dyskinesia 19,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Primary ciliary dyskinesia 19|Infertility disorder|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}