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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: 14-103522171-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103522171&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 103522171,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001362531.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "NM_001823.5",
"protein_id": "NP_001814.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 381,
"cds_start": 200,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348956.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001823.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000348956.7",
"protein_id": "ENSP00000299198.2",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 381,
"cds_start": 200,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001823.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348956.7"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "NM_001362531.2",
"protein_id": "NP_001349460.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 405,
"cds_start": 200,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362531.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000689346.1",
"protein_id": "ENSP00000508488.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 405,
"cds_start": 200,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689346.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000955393.1",
"protein_id": "ENSP00000625452.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 382,
"cds_start": 200,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955393.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000955391.1",
"protein_id": "ENSP00000625450.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 381,
"cds_start": 200,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955391.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000873263.1",
"protein_id": "ENSP00000543322.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 358,
"cds_start": 200,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873263.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000955392.1",
"protein_id": "ENSP00000625451.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 345,
"cds_start": 200,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955392.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000553878.5",
"protein_id": "ENSP00000451904.1",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 216,
"cds_start": 200,
"cds_end": null,
"cds_length": 653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553878.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000873264.1",
"protein_id": "ENSP00000543323.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 146,
"cds_start": 200,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873264.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "c.113C>A",
"hgvs_p": "p.Pro38Gln",
"transcript": "ENST00000557530.1",
"protein_id": "ENSP00000451611.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 127,
"cds_start": 113,
"cds_end": null,
"cds_length": 385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557530.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRMT61A",
"gene_hgnc_id": 23790,
"hgvs_c": "c.-30+143G>T",
"hgvs_p": null,
"transcript": "ENST00000955301.1",
"protein_id": "ENSP00000625360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955301.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRMT61A",
"gene_hgnc_id": 23790,
"hgvs_c": "c.-30+128G>T",
"hgvs_p": null,
"transcript": "ENST00000955302.1",
"protein_id": "ENSP00000625361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955302.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRMT61A",
"gene_hgnc_id": 23790,
"hgvs_c": "c.-30+5G>T",
"hgvs_p": null,
"transcript": "ENST00000955303.1",
"protein_id": "ENSP00000625362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955303.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRMT61A",
"gene_hgnc_id": 23790,
"hgvs_c": "c.-228+5G>T",
"hgvs_p": null,
"transcript": "ENST00000955304.1",
"protein_id": "ENSP00000625363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955304.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "n.63C>A",
"hgvs_p": null,
"transcript": "ENST00000553652.5",
"protein_id": "ENSP00000450676.1",
"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": "ENST00000553652.5"
},
{
"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": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "n.403C>A",
"hgvs_p": null,
"transcript": "ENST00000553994.1",
"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": "ENST00000553994.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "n.249C>A",
"hgvs_p": null,
"transcript": "ENST00000554426.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000554426.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "n.280C>A",
"hgvs_p": null,
"transcript": "ENST00000554705.5",
"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": "ENST00000554705.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "n.277C>A",
"hgvs_p": null,
"transcript": "ENST00000555659.5",
"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": "ENST00000555659.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "n.400C>A",
"hgvs_p": null,
"transcript": "ENST00000555770.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000555770.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "n.132C>A",
"hgvs_p": null,
"transcript": "ENST00000557287.1",
"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": "ENST00000557287.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"hgvs_c": "n.28C>A",
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"transcript": "ENST00000557569.1",
"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": "ENST00000557569.1"
}
],
"gene_symbol": "CKB",
"gene_hgnc_id": 1991,
"dbsnp": "rs11545348",
"frequency_reference_population": 0.0000020667305,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000206673,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8877193927764893,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.694,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.869,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001362531.2",
"gene_symbol": "CKB",
"hgnc_id": 1991,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000955303.1",
"gene_symbol": "TRMT61A",
"hgnc_id": 23790,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-30+5G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}