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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: 19-48211784-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48211784&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48211784,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001184900.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.1540C>G",
"hgvs_p": "p.Leu514Val",
"transcript": "NM_001184900.3",
"protein_id": "NP_001171829.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 537,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": "ENST00000651546.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184900.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.1540C>G",
"hgvs_p": "p.Leu514Val",
"transcript": "ENST00000651546.1",
"protein_id": "ENSP00000499211.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 537,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": "NM_001184900.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651546.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.1540C>G",
"hgvs_p": "p.Leu514Val",
"transcript": "ENST00000391898.7",
"protein_id": "ENSP00000375767.3",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 537,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 5263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391898.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.1390C>G",
"hgvs_p": "p.Leu464Val",
"transcript": "ENST00000520153.5",
"protein_id": "ENSP00000428736.1",
"transcript_support_level": 1,
"aa_start": 464,
"aa_end": null,
"aa_length": 487,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520153.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.*219C>G",
"hgvs_p": null,
"transcript": "ENST00000520753.5",
"protein_id": "ENSP00000429839.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": null,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520753.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.*1097C>G",
"hgvs_p": null,
"transcript": "ENST00000518622.5",
"protein_id": "ENSP00000430057.1",
"transcript_support_level": 1,
"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": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518622.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.*955C>G",
"hgvs_p": null,
"transcript": "ENST00000518979.5",
"protein_id": "ENSP00000430495.1",
"transcript_support_level": 1,
"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": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518979.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.*1100C>G",
"hgvs_p": null,
"transcript": "ENST00000521415.5",
"protein_id": "ENSP00000428862.1",
"transcript_support_level": 1,
"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": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521415.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.*1256C>G",
"hgvs_p": null,
"transcript": "ENST00000522773.5",
"protein_id": "ENSP00000429362.1",
"transcript_support_level": 1,
"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": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522773.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.*1097C>G",
"hgvs_p": null,
"transcript": "ENST00000518622.5",
"protein_id": "ENSP00000430057.1",
"transcript_support_level": 1,
"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": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518622.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.*955C>G",
"hgvs_p": null,
"transcript": "ENST00000518979.5",
"protein_id": "ENSP00000430495.1",
"transcript_support_level": 1,
"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": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518979.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.*1100C>G",
"hgvs_p": null,
"transcript": "ENST00000521415.5",
"protein_id": "ENSP00000428862.1",
"transcript_support_level": 1,
"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": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521415.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.*1256C>G",
"hgvs_p": null,
"transcript": "ENST00000522773.5",
"protein_id": "ENSP00000429362.1",
"transcript_support_level": 1,
"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": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522773.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.127+3556C>G",
"hgvs_p": null,
"transcript": "ENST00000518450.5",
"protein_id": "ENSP00000428975.1",
"transcript_support_level": 1,
"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": 1363,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518450.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.1540C>G",
"hgvs_p": "p.Leu514Val",
"transcript": "NM_001351782.2",
"protein_id": "NP_001338711.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 537,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 2219,
"cdna_end": null,
"cdna_length": 5917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351782.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.1540C>G",
"hgvs_p": "p.Leu514Val",
"transcript": "ENST00000519940.6",
"protein_id": "ENSP00000428883.1",
"transcript_support_level": 5,
"aa_start": 514,
"aa_end": null,
"aa_length": 537,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519940.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Leu513Val",
"transcript": "ENST00000877775.1",
"protein_id": "ENSP00000547834.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 536,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1811,
"cdna_end": null,
"cdna_length": 3949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877775.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Leu513Val",
"transcript": "ENST00000877776.1",
"protein_id": "ENSP00000547835.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 536,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877776.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Leu513Val",
"transcript": "ENST00000930774.1",
"protein_id": "ENSP00000600833.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 536,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930774.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Leu513Val",
"transcript": "ENST00000946860.1",
"protein_id": "ENSP00000616919.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 536,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 5115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946860.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Leu513Val",
"transcript": "ENST00000946861.1",
"protein_id": "ENSP00000616920.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 536,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946861.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.1534C>G",
"hgvs_p": "p.Leu512Val",
"transcript": "ENST00000877780.1",
"protein_id": "ENSP00000547839.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 535,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1892,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}