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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: 3-169774313-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=169774313&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 169774313,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_018657.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "NM_018657.5",
"protein_id": "NP_061127.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 610,
"cds_start": 18,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349841.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018657.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000349841.10",
"protein_id": "ENSP00000326240.4",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 610,
"cds_start": 18,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018657.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349841.10"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000356716.8",
"protein_id": "ENSP00000349150.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 610,
"cds_start": 18,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356716.8"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000544106.5",
"protein_id": "ENSP00000440637.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 581,
"cds_start": 18,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544106.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "n.18C>T",
"hgvs_p": null,
"transcript": "ENST00000602751.5",
"protein_id": "ENSP00000473654.1",
"transcript_support_level": 1,
"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": "ENST00000602751.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "NM_001185118.2",
"protein_id": "NP_001172047.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 610,
"cds_start": 18,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185118.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000900707.1",
"protein_id": "ENSP00000570766.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 610,
"cds_start": 18,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900707.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000938902.1",
"protein_id": "ENSP00000608961.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 610,
"cds_start": 18,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938902.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000938903.1",
"protein_id": "ENSP00000608962.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 610,
"cds_start": 18,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938903.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000938905.1",
"protein_id": "ENSP00000608964.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 610,
"cds_start": 18,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938905.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000938906.1",
"protein_id": "ENSP00000608965.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 610,
"cds_start": 18,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938906.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000938904.1",
"protein_id": "ENSP00000608963.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 609,
"cds_start": 18,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938904.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000941310.1",
"protein_id": "ENSP00000611369.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 608,
"cds_start": 18,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941310.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000900709.1",
"protein_id": "ENSP00000570768.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 607,
"cds_start": 18,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900709.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000900706.1",
"protein_id": "ENSP00000570765.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 582,
"cds_start": 18,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900706.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000941309.1",
"protein_id": "ENSP00000611368.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 582,
"cds_start": 18,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941309.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "NM_001185119.1",
"protein_id": "NP_001172048.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 581,
"cds_start": 18,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185119.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000900708.1",
"protein_id": "ENSP00000570767.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 572,
"cds_start": 18,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900708.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000900711.1",
"protein_id": "ENSP00000570770.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 500,
"cds_start": 18,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900711.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000941311.1",
"protein_id": "ENSP00000611370.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 378,
"cds_start": 18,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941311.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His",
"transcript": "ENST00000900710.1",
"protein_id": "ENSP00000570769.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 350,
"cds_start": 18,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "n.116C>T",
"hgvs_p": null,
"transcript": "NR_033702.2",
"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": "NR_033702.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"hgvs_c": "n.116C>T",
"hgvs_p": null,
"transcript": "NR_033703.2",
"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": "NR_033703.2"
}
],
"gene_symbol": "MYNN",
"gene_hgnc_id": 14955,
"dbsnp": "rs10936599",
"frequency_reference_population": 0.25453112,
"hom_count_reference_population": 58494,
"allele_count_reference_population": 410577,
"gnomad_exomes_af": 0.25885,
"gnomad_genomes_af": 0.21307,
"gnomad_exomes_ac": 378152,
"gnomad_genomes_ac": 32425,
"gnomad_exomes_homalt": 54018,
"gnomad_genomes_homalt": 4476,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.155,
"phylop100way_prediction": "Benign",
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_018657.5",
"gene_symbol": "MYNN",
"hgnc_id": 14955,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.18C>T",
"hgvs_p": "p.His6His"
}
],
"clinvar_disease": "Chronic osteomyelitis",
"clinvar_classification": "association",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Chronic osteomyelitis",
"pathogenicity_classification_combined": "association",
"custom_annotations": null
}
],
"message": null
}