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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: 2-207560248-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=207560248&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 207560248,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_134442.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "NM_004379.5",
"protein_id": "NP_004370.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 327,
"cds_start": 137,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000353267.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004379.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "ENST00000353267.8",
"protein_id": "ENSP00000236995.3",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 327,
"cds_start": 137,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004379.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353267.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "ENST00000432329.6",
"protein_id": "ENSP00000387699.2",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 341,
"cds_start": 137,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432329.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "NM_001371426.1",
"protein_id": "NP_001358355.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 341,
"cds_start": 137,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371426.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "NM_134442.5",
"protein_id": "NP_604391.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 341,
"cds_start": 137,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134442.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "ENST00000915136.1",
"protein_id": "ENSP00000585195.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 341,
"cds_start": 137,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915136.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "ENST00000961891.1",
"protein_id": "ENSP00000631950.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 341,
"cds_start": 137,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961891.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "NM_001371427.1",
"protein_id": "NP_001358356.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 327,
"cds_start": 137,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371427.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "ENST00000430624.5",
"protein_id": "ENSP00000405539.1",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 327,
"cds_start": 137,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430624.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "ENST00000961892.1",
"protein_id": "ENSP00000631951.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 327,
"cds_start": 137,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961892.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ala6Gly",
"transcript": "NM_001371428.1",
"protein_id": "NP_001358357.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 287,
"cds_start": 17,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371428.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "ENST00000896943.1",
"protein_id": "ENSP00000567002.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 280,
"cds_start": 137,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896943.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "ENST00000896942.1",
"protein_id": "ENSP00000567001.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 266,
"cds_start": 137,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896942.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ala6Gly",
"transcript": "ENST00000448277.5",
"protein_id": "ENSP00000405711.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 250,
"cds_start": 17,
"cds_end": null,
"cds_length": 755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448277.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "NM_001320793.2",
"protein_id": "NP_001307722.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 234,
"cds_start": 137,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320793.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "ENST00000445803.5",
"protein_id": "ENSP00000407227.1",
"transcript_support_level": 4,
"aa_start": 46,
"aa_end": null,
"aa_length": 181,
"cds_start": 137,
"cds_end": null,
"cds_length": 547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445803.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ala6Gly",
"transcript": "ENST00000421139.5",
"protein_id": "ENSP00000403678.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 169,
"cds_start": 17,
"cds_end": null,
"cds_length": 512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421139.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "ENST00000452474.5",
"protein_id": "ENSP00000392428.1",
"transcript_support_level": 4,
"aa_start": 46,
"aa_end": null,
"aa_length": 131,
"cds_start": 137,
"cds_end": null,
"cds_length": 397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452474.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ala6Gly",
"transcript": "ENST00000457101.5",
"protein_id": "ENSP00000391125.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 130,
"cds_start": 17,
"cds_end": null,
"cds_length": 394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457101.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "ENST00000414681.1",
"protein_id": "ENSP00000404890.1",
"transcript_support_level": 4,
"aa_start": 46,
"aa_end": null,
"aa_length": 78,
"cds_start": 137,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414681.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "XM_047443435.1",
"protein_id": "XP_047299391.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 341,
"cds_start": 137,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443435.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.137C>G",
"hgvs_p": "p.Ala46Gly",
"transcript": "XM_011510646.4",
"protein_id": "XP_011508948.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 336,
"cds_start": 137,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510646.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}