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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: 22-20457882-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20457882&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20457882,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032775.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "NM_032775.4",
"protein_id": "NP_116164.2",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000328879.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032775.4"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000328879.9",
"protein_id": "ENSP00000331682.4",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032775.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328879.9"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000871932.1",
"protein_id": "ENSP00000541991.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871932.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000871933.1",
"protein_id": "ENSP00000541992.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871933.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000871934.1",
"protein_id": "ENSP00000541993.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871934.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000871935.1",
"protein_id": "ENSP00000541994.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871935.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000871937.1",
"protein_id": "ENSP00000541996.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871937.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000871938.1",
"protein_id": "ENSP00000541997.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871938.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000871939.1",
"protein_id": "ENSP00000541998.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871939.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000871940.1",
"protein_id": "ENSP00000541999.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871940.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000912749.1",
"protein_id": "ENSP00000582808.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912749.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000912751.1",
"protein_id": "ENSP00000582810.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912751.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000957182.1",
"protein_id": "ENSP00000627241.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957182.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000957183.1",
"protein_id": "ENSP00000627242.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957183.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000957184.1",
"protein_id": "ENSP00000627243.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957184.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000957185.1",
"protein_id": "ENSP00000627244.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957185.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "ENST00000957186.1",
"protein_id": "ENSP00000627245.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957186.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Asn338Asp",
"transcript": "ENST00000871936.1",
"protein_id": "ENSP00000541995.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 561,
"cds_start": 1012,
"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": "ENST00000871936.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.346A>G",
"hgvs_p": "p.Asn116Asp",
"transcript": "ENST00000912750.1",
"protein_id": "ENSP00000582809.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 339,
"cds_start": 346,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912750.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1375A>G",
"hgvs_p": "p.Asn459Asp",
"transcript": "XM_017029019.3",
"protein_id": "XP_016884508.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 682,
"cds_start": 1375,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029019.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Asn443Asp",
"transcript": "XM_017029020.3",
"protein_id": "XP_016884509.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 666,
"cds_start": 1327,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029020.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp",
"transcript": "XM_017029021.3",
"protein_id": "XP_016884510.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 634,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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{
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{
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{
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{
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{
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],
"gene_symbol": "KLHL22",
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"dbsnp": "rs772430084",
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"hom_count_reference_population": 3,
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"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06602820754051208,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.1098,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.288,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032775.4",
"gene_symbol": "KLHL22",
"hgnc_id": 25888,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Asn411Asp"
}
],
"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
}