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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: 8-68446430-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=68446430&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 68446430,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_052958.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "NM_052958.4",
"protein_id": "NP_443190.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 538,
"cds_start": 577,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000518698.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052958.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "ENST00000518698.6",
"protein_id": "ENSP00000427820.1",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 538,
"cds_start": 577,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052958.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518698.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.244A>G",
"hgvs_p": "p.Ile82Val",
"transcript": "ENST00000337103.8",
"protein_id": "ENSP00000337174.4",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 427,
"cds_start": 244,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337103.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "ENST00000348340.6",
"protein_id": "ENSP00000345255.2",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 287,
"cds_start": 319,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348340.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "ENST00000924297.1",
"protein_id": "ENSP00000594356.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 560,
"cds_start": 577,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924297.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "NM_001349476.1",
"protein_id": "NP_001336405.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 535,
"cds_start": 577,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349476.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "ENST00000860816.1",
"protein_id": "ENSP00000530875.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 535,
"cds_start": 577,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860816.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "NM_001349477.1",
"protein_id": "NP_001336406.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 521,
"cds_start": 577,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349477.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "ENST00000860815.1",
"protein_id": "ENSP00000530874.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 521,
"cds_start": 577,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860815.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "ENST00000924298.1",
"protein_id": "ENSP00000594357.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 518,
"cds_start": 577,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924298.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "NM_001349478.1",
"protein_id": "NP_001336407.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 495,
"cds_start": 577,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349478.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "NM_001349479.1",
"protein_id": "NP_001336408.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 478,
"cds_start": 577,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349479.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "NM_001195639.2",
"protein_id": "NP_001182568.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 373,
"cds_start": 577,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195639.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "NM_001349480.1",
"protein_id": "NP_001336409.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 330,
"cds_start": 577,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349480.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "ENST00000523686.5",
"protein_id": "ENSP00000429102.1",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 129,
"cds_start": 319,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523686.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "XM_047421328.1",
"protein_id": "XP_047277284.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 518,
"cds_start": 577,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421328.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "XM_047421329.1",
"protein_id": "XP_047277285.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 501,
"cds_start": 577,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421329.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "XM_011517449.3",
"protein_id": "XP_011515751.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 414,
"cds_start": 577,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517449.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "XM_011517450.3",
"protein_id": "XP_011515752.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 372,
"cds_start": 577,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517450.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "n.448A>G",
"hgvs_p": null,
"transcript": "ENST00000349492.3",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000349492.3"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "n.244A>G",
"hgvs_p": null,
"transcript": "ENST00000521406.5",
"protein_id": "ENSP00000429081.1",
"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": "ENST00000521406.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "n.1217A>G",
"hgvs_p": null,
"transcript": "NR_146186.1",
"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": "NR_146186.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"hgvs_c": "n.1217A>G",
"hgvs_p": null,
"transcript": "NR_146187.1",
"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": "NR_146187.1"
}
],
"gene_symbol": "C8orf34",
"gene_hgnc_id": 30905,
"dbsnp": "rs750929639",
"frequency_reference_population": 0.0000068194304,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000616076,
"gnomad_genomes_af": 0.0000131423,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10562777519226074,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.139,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.829,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_052958.4",
"gene_symbol": "C8orf34",
"hgnc_id": 30905,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val"
}
],
"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
}