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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: 19-48211939-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48211939&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48211939,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001184900.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1385A>G",
"hgvs_p": "p.Gln462Arg",
"transcript": "NM_001184900.3",
"protein_id": "NP_001171829.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 537,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651546.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184900.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1385A>G",
"hgvs_p": "p.Gln462Arg",
"transcript": "ENST00000651546.1",
"protein_id": "ENSP00000499211.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 537,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001184900.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651546.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1385A>G",
"hgvs_p": "p.Gln462Arg",
"transcript": "ENST00000391898.7",
"protein_id": "ENSP00000375767.3",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 537,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391898.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1235A>G",
"hgvs_p": "p.Gln412Arg",
"transcript": "ENST00000520153.5",
"protein_id": "ENSP00000428736.1",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 487,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.*64A>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": null,
"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.*942A>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": null,
"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.*800A>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": null,
"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.*945A>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": null,
"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.*1101A>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": null,
"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.*942A>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": null,
"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.*800A>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": null,
"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.*945A>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": null,
"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.*1101A>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": null,
"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+3401A>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518450.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1385A>G",
"hgvs_p": "p.Gln462Arg",
"transcript": "NM_001351782.2",
"protein_id": "NP_001338711.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 537,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351782.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1385A>G",
"hgvs_p": "p.Gln462Arg",
"transcript": "ENST00000519940.6",
"protein_id": "ENSP00000428883.1",
"transcript_support_level": 5,
"aa_start": 462,
"aa_end": null,
"aa_length": 537,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519940.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1382A>G",
"hgvs_p": "p.Gln461Arg",
"transcript": "ENST00000877775.1",
"protein_id": "ENSP00000547834.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 536,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877775.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1382A>G",
"hgvs_p": "p.Gln461Arg",
"transcript": "ENST00000877776.1",
"protein_id": "ENSP00000547835.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 536,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877776.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1382A>G",
"hgvs_p": "p.Gln461Arg",
"transcript": "ENST00000930774.1",
"protein_id": "ENSP00000600833.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 536,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930774.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1382A>G",
"hgvs_p": "p.Gln461Arg",
"transcript": "ENST00000946860.1",
"protein_id": "ENSP00000616919.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 536,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946860.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1382A>G",
"hgvs_p": "p.Gln461Arg",
"transcript": "ENST00000946861.1",
"protein_id": "ENSP00000616920.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 536,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946861.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1379A>G",
"hgvs_p": "p.Gln460Arg",
"transcript": "ENST00000877780.1",
"protein_id": "ENSP00000547839.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 535,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001184900.3",
"gene_symbol": "CARD8",
"hgnc_id": 17057,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Gln462Arg"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000595201.2",
"gene_symbol": "ENSG00000268583",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.390-1027T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}