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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: 2-71070826-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71070826&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71070826,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017567.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "NM_017567.6",
"protein_id": "NP_060037.4",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 344,
"cds_start": 200,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000244204.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017567.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"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": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000244204.11",
"protein_id": "ENSP00000244204.5",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 344,
"cds_start": 200,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017567.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244204.11"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.338C>A",
"hgvs_p": "p.Pro113Gln",
"transcript": "ENST00000455662.6",
"protein_id": "ENSP00000389087.2",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 390,
"cds_start": 338,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455662.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.338C>A",
"hgvs_p": "p.Pro113Gln",
"transcript": "ENST00000613852.4",
"protein_id": "ENSP00000477639.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 390,
"cds_start": 338,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613852.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000951785.1",
"protein_id": "ENSP00000621844.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 342,
"cds_start": 200,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951785.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000443938.6",
"protein_id": "ENSP00000411846.3",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 340,
"cds_start": 200,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443938.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000868350.1",
"protein_id": "ENSP00000538409.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 332,
"cds_start": 200,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868350.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000868351.1",
"protein_id": "ENSP00000538410.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 307,
"cds_start": 200,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868351.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.47C>A",
"hgvs_p": "p.Pro16Gln",
"transcript": "NM_001330425.3",
"protein_id": "NP_001317354.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 293,
"cds_start": 47,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330425.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.47C>A",
"hgvs_p": "p.Pro16Gln",
"transcript": "NM_001330426.2",
"protein_id": "NP_001317355.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 293,
"cds_start": 47,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330426.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.47C>A",
"hgvs_p": "p.Pro16Gln",
"transcript": "NM_001365466.2",
"protein_id": "NP_001352395.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 293,
"cds_start": 47,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365466.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.47C>A",
"hgvs_p": "p.Pro16Gln",
"transcript": "ENST00000418807.7",
"protein_id": "ENSP00000396070.3",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 293,
"cds_start": 47,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418807.7"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "ENST00000936945.1",
"protein_id": "ENSP00000607004.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 266,
"cds_start": 200,
"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": "ENST00000936945.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.47C>A",
"hgvs_p": "p.Pro16Gln",
"transcript": "ENST00000533981.5",
"protein_id": "ENSP00000435207.2",
"transcript_support_level": 3,
"aa_start": 16,
"aa_end": null,
"aa_length": 83,
"cds_start": 47,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533981.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"transcript": "XM_017004440.2",
"protein_id": "XP_016859929.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 217,
"cds_start": 200,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004440.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.-103C>A",
"hgvs_p": null,
"transcript": "ENST00000531934.5",
"protein_id": "ENSP00000436326.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531934.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.-89-1815C>A",
"hgvs_p": null,
"transcript": "ENST00000443872.6",
"protein_id": "ENSP00000404531.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443872.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "n.171C>A",
"hgvs_p": null,
"transcript": "ENST00000428360.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000428360.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "n.200C>A",
"hgvs_p": null,
"transcript": "ENST00000450272.5",
"protein_id": "ENSP00000400941.2",
"transcript_support_level": 5,
"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": "ENST00000450272.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "n.527C>A",
"hgvs_p": null,
"transcript": "ENST00000464638.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000464638.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "n.388C>A",
"hgvs_p": null,
"transcript": "ENST00000465105.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000465105.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "n.219C>A",
"hgvs_p": null,
"transcript": "ENST00000472519.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000472519.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"computational_source_selected": "MetaRNN",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.35,
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}