← Back to variant description
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: 5-34929851-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=34929851&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 34929851,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_194283.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "NM_001012339.3",
"protein_id": "NP_001012339.2",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 531,
"cds_start": 32,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648817.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012339.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "ENST00000648817.1",
"protein_id": "ENSP00000497410.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 531,
"cds_start": 32,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001012339.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648817.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "ENST00000966889.1",
"protein_id": "ENSP00000636948.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 608,
"cds_start": 32,
"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": "ENST00000966889.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "NM_194283.4",
"protein_id": "NP_919259.3",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 576,
"cds_start": 32,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194283.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "ENST00000382021.2",
"protein_id": "ENSP00000371451.2",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 576,
"cds_start": 32,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382021.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "ENST00000911976.1",
"protein_id": "ENSP00000582035.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 561,
"cds_start": 32,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911976.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "NM_001348420.2",
"protein_id": "NP_001335349.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 544,
"cds_start": 32,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348420.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "ENST00000642851.1",
"protein_id": "ENSP00000496545.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 544,
"cds_start": 32,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642851.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "ENST00000966890.1",
"protein_id": "ENSP00000636949.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 490,
"cds_start": 32,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966890.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "ENST00000911975.1",
"protein_id": "ENSP00000582034.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 478,
"cds_start": 32,
"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": "ENST00000911975.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"transcript": "XM_011513965.3",
"protein_id": "XP_011512267.2",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 676,
"cds_start": 293,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513965.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"transcript": "XM_011513966.3",
"protein_id": "XP_011512268.2",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 598,
"cds_start": 293,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513966.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"transcript": "XM_047416719.1",
"protein_id": "XP_047272675.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 585,
"cds_start": 293,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416719.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"transcript": "XM_005248250.4",
"protein_id": "XP_005248307.2",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 553,
"cds_start": 293,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248250.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"transcript": "XM_047416720.1",
"protein_id": "XP_047272676.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 540,
"cds_start": 293,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416720.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.-317G>A",
"hgvs_p": null,
"transcript": "ENST00000506762.2",
"protein_id": "ENSP00000513864.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506762.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "n.259G>A",
"hgvs_p": null,
"transcript": "ENST00000512136.2",
"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": "pseudogene",
"feature": "ENST00000512136.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.-762G>A",
"hgvs_p": null,
"transcript": "ENST00000642285.1",
"protein_id": "ENSP00000493883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642285.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.-762G>A",
"hgvs_p": null,
"transcript": "ENST00000644357.2",
"protein_id": "ENSP00000493850.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": null,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644357.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.-762G>A",
"hgvs_p": null,
"transcript": "ENST00000642675.1",
"protein_id": "ENSP00000494173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": null,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642675.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.-762G>A",
"hgvs_p": null,
"transcript": "XM_047416722.1",
"protein_id": "XP_047272678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416722.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "n.-762G>A",
"hgvs_p": null,
"transcript": "ENST00000646714.1",
"protein_id": "ENSP00000495883.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000646714.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124900961",
"gene_hgnc_id": null,
"hgvs_c": "n.-170C>T",
"hgvs_p": null,
"transcript": "XR_007058731.1",
"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": "XR_007058731.1"
}
],
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"dbsnp": "rs772171513",
"frequency_reference_population": 0.0000014026662,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000140267,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1497631072998047,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.2245,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.724,
"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": 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_194283.4",
"gene_symbol": "DNAJC21",
"hgnc_id": 27030,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007058731.1",
"gene_symbol": "LOC124900961",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-170C>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
}