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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: 8-22163947-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22163947&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 22163947,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003018.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "NM_001317778.2",
"protein_id": "NP_001304707.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 191,
"cds_start": 482,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000679463.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317778.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "ENST00000679463.1",
"protein_id": "ENSP00000505152.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 191,
"cds_start": 482,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001317778.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679463.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.500G>C",
"hgvs_p": "p.Arg167Pro",
"transcript": "ENST00000318561.7",
"protein_id": "ENSP00000316152.3",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 197,
"cds_start": 500,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318561.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "ENST00000521315.5",
"protein_id": "ENSP00000430410.1",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 191,
"cds_start": 482,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521315.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.500G>C",
"hgvs_p": "p.Arg167Pro",
"transcript": "NM_001172410.2",
"protein_id": "NP_001165881.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 197,
"cds_start": 500,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172410.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.500G>C",
"hgvs_p": "p.Arg167Pro",
"transcript": "NM_001385653.1",
"protein_id": "NP_001372582.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 197,
"cds_start": 500,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385653.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.500G>C",
"hgvs_p": "p.Arg167Pro",
"transcript": "NM_001385654.1",
"protein_id": "NP_001372583.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 197,
"cds_start": 500,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385654.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.500G>C",
"hgvs_p": "p.Arg167Pro",
"transcript": "NM_001385655.1",
"protein_id": "NP_001372584.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 197,
"cds_start": 500,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385655.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.500G>C",
"hgvs_p": "p.Arg167Pro",
"transcript": "NM_003018.4",
"protein_id": "NP_003009.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 197,
"cds_start": 500,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003018.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "NM_001172357.2",
"protein_id": "NP_001165828.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 191,
"cds_start": 482,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172357.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "NM_001317780.2",
"protein_id": "NP_001304709.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 191,
"cds_start": 482,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317780.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "NM_001385656.1",
"protein_id": "NP_001372585.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 191,
"cds_start": 482,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385656.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "NM_001385657.1",
"protein_id": "NP_001372586.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 191,
"cds_start": 482,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385657.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "NM_001385658.1",
"protein_id": "NP_001372587.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 191,
"cds_start": 482,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385658.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "NM_001385659.1",
"protein_id": "NP_001372588.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 191,
"cds_start": 482,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385659.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.389G>C",
"hgvs_p": "p.Arg130Pro",
"transcript": "ENST00000950317.1",
"protein_id": "ENSP00000620376.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 160,
"cds_start": 389,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950317.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Arg124Pro",
"transcript": "ENST00000905727.1",
"protein_id": "ENSP00000575786.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 154,
"cds_start": 371,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905727.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.341G>C",
"hgvs_p": "p.Arg114Pro",
"transcript": "NM_001317779.2",
"protein_id": "NP_001304708.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 144,
"cds_start": 341,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317779.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.341G>C",
"hgvs_p": "p.Arg114Pro",
"transcript": "NM_001385660.1",
"protein_id": "NP_001372589.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 144,
"cds_start": 341,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385660.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.341G>C",
"hgvs_p": "p.Arg114Pro",
"transcript": "ENST00000524255.5",
"protein_id": "ENSP00000429552.1",
"transcript_support_level": 2,
"aa_start": 114,
"aa_end": null,
"aa_length": 144,
"cds_start": 341,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524255.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Pro",
"transcript": "ENST00000523296.1",
"protein_id": "ENSP00000429619.1",
"transcript_support_level": 3,
"aa_start": 108,
"aa_end": null,
"aa_length": 123,
"cds_start": 323,
"cds_end": null,
"cds_length": 374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523296.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPC",
"gene_hgnc_id": 10802,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "ENST00000950318.1",
"protein_id": "ENSP00000620377.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 107,
"cds_start": 230,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950318.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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}
],
"message": null
}