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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: 19-34209022-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=34209022&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 34209022,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001384420.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "NM_015578.4",
"protein_id": "NP_056393.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 463,
"cds_start": 509,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000544216.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015578.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "ENST00000544216.8",
"protein_id": "ENSP00000446271.2",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 463,
"cds_start": 509,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015578.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544216.8"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "ENST00000433627.9",
"protein_id": "ENSP00000413964.3",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 463,
"cds_start": 509,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433627.9"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "NM_001384420.1",
"protein_id": "NP_001371349.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 468,
"cds_start": 509,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384420.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "NM_001114093.3",
"protein_id": "NP_001107565.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 463,
"cds_start": 509,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114093.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "ENST00000906057.1",
"protein_id": "ENSP00000576116.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 462,
"cds_start": 509,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906057.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "NM_001384421.1",
"protein_id": "NP_001371350.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 461,
"cds_start": 509,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384421.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "ENST00000914870.1",
"protein_id": "ENSP00000584929.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 461,
"cds_start": 509,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914870.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Thr159Arg",
"transcript": "NM_001384422.1",
"protein_id": "NP_001371351.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 452,
"cds_start": 476,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384422.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Thr159Arg",
"transcript": "ENST00000906059.1",
"protein_id": "ENSP00000576118.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 452,
"cds_start": 476,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906059.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "ENST00000914871.1",
"protein_id": "ENSP00000584930.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 432,
"cds_start": 509,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914871.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "NM_001384424.1",
"protein_id": "NP_001371353.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 409,
"cds_start": 509,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384424.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "NM_001384425.1",
"protein_id": "NP_001371354.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 404,
"cds_start": 509,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384425.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "NM_001384426.1",
"protein_id": "NP_001371355.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 404,
"cds_start": 509,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384426.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "ENST00000906061.1",
"protein_id": "ENSP00000576120.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 403,
"cds_start": 509,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906061.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "NM_001384427.1",
"protein_id": "NP_001371356.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 402,
"cds_start": 509,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384427.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "NM_001384428.1",
"protein_id": "NP_001371357.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 402,
"cds_start": 509,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384428.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "ENST00000906056.1",
"protein_id": "ENSP00000576115.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 402,
"cds_start": 509,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906056.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "ENST00000914869.1",
"protein_id": "ENSP00000584928.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 401,
"cds_start": 509,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914869.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.455C>G",
"hgvs_p": "p.Thr152Arg",
"transcript": "ENST00000970126.1",
"protein_id": "ENSP00000640185.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 386,
"cds_start": 455,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970126.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "NM_001384429.1",
"protein_id": "NP_001371358.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 382,
"cds_start": 509,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384429.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM14A",
"gene_hgnc_id": 24489,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg",
"transcript": "ENST00000906058.1",
"protein_id": "ENSP00000576117.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 382,
"cds_start": 509,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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{
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"biotype": "pseudogene",
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{
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"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"gene_symbol": "LSM14A",
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"biotype": "pseudogene",
"feature": "NR_169266.1"
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],
"gene_symbol": "LSM14A",
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"dbsnp": "rs764222496",
"frequency_reference_population": 0.0000013876804,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138768,
"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": 0.14859488606452942,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.1973,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.721,
"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_001384420.1",
"gene_symbol": "LSM14A",
"hgnc_id": 24489,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Thr170Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}