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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: 7-1157698-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=1157698&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 1157698,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001365383.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "NM_182491.4",
"protein_id": "NP_872297.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316495.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182491.4"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000316495.8",
"protein_id": "ENSP00000314619.3",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182491.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316495.8"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000397083.6",
"protein_id": "ENSP00000380273.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 204,
"cds_start": 108,
"cds_end": null,
"cds_length": 617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397083.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "NM_001365383.1",
"protein_id": "NP_001352312.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 180,
"cds_start": 108,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365383.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000401903.6",
"protein_id": "ENSP00000386031.1",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 180,
"cds_start": 108,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401903.6"
},
{
"aa_ref": "H",
"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": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000898905.1",
"protein_id": "ENSP00000568964.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898905.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000898906.1",
"protein_id": "ENSP00000568965.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898906.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000898907.1",
"protein_id": "ENSP00000568966.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898907.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000898908.1",
"protein_id": "ENSP00000568967.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898908.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000898909.1",
"protein_id": "ENSP00000568968.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898909.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000898910.1",
"protein_id": "ENSP00000568969.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898910.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000898911.1",
"protein_id": "ENSP00000568970.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898911.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000898912.1",
"protein_id": "ENSP00000568971.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898912.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000898913.1",
"protein_id": "ENSP00000568972.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898913.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000898914.1",
"protein_id": "ENSP00000568973.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898914.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000898915.1",
"protein_id": "ENSP00000568974.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898915.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000898916.1",
"protein_id": "ENSP00000568975.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898916.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000928431.1",
"protein_id": "ENSP00000598490.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 145,
"cds_start": 108,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928431.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "NM_001365381.2",
"protein_id": "NP_001352310.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 114,
"cds_start": 108,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365381.2"
},
{
"aa_ref": "H",
"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": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln",
"transcript": "ENST00000928430.1",
"protein_id": "ENSP00000598489.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 101,
"cds_start": 108,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928430.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "c.33T>G",
"hgvs_p": "p.His11Gln",
"transcript": "ENST00000574135.2",
"protein_id": "ENSP00000459173.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 89,
"cds_start": 33,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574135.2"
},
{
"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": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "n.409T>G",
"hgvs_p": null,
"transcript": "ENST00000484977.1",
"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": "ENST00000484977.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"hgvs_c": "n.386T>G",
"hgvs_p": null,
"transcript": "NR_158186.2",
"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_158186.2"
}
],
"gene_symbol": "ZFAND2A",
"gene_hgnc_id": 28073,
"dbsnp": "rs771816621",
"frequency_reference_population": 0.00003063753,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000332283,
"gnomad_genomes_af": 0.00000656814,
"gnomad_exomes_ac": 47,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9600468873977661,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.863,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.948,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.054,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001365383.1",
"gene_symbol": "ZFAND2A",
"hgnc_id": 28073,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.108T>G",
"hgvs_p": "p.His36Gln"
}
],
"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
}