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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: 16-67444642-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67444642&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67444642,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004691.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Ala123Ser",
"transcript": "NM_004691.5",
"protein_id": "NP_004682.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 351,
"cds_start": 367,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000290949.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004691.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Ala123Ser",
"transcript": "ENST00000290949.8",
"protein_id": "ENSP00000290949.3",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 351,
"cds_start": 367,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004691.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290949.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Ala164Ser",
"transcript": "ENST00000540149.5",
"protein_id": "ENSP00000441282.1",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 392,
"cds_start": 490,
"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": "ENST00000540149.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Ala123Ser",
"transcript": "ENST00000898463.1",
"protein_id": "ENSP00000568522.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 364,
"cds_start": 367,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898463.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Ala123Ser",
"transcript": "ENST00000936171.1",
"protein_id": "ENSP00000606230.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 350,
"cds_start": 367,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936171.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.361G>T",
"hgvs_p": "p.Ala121Ser",
"transcript": "ENST00000898461.1",
"protein_id": "ENSP00000568520.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 349,
"cds_start": 361,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898461.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Ala123Ser",
"transcript": "ENST00000956178.1",
"protein_id": "ENSP00000626237.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 349,
"cds_start": 367,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956178.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Ala123Ser",
"transcript": "ENST00000956180.1",
"protein_id": "ENSP00000626239.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 342,
"cds_start": 367,
"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": "ENST00000956180.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Ala123Ser",
"transcript": "ENST00000898462.1",
"protein_id": "ENSP00000568521.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 340,
"cds_start": 367,
"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": "ENST00000898462.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Ala123Ser",
"transcript": "ENST00000956179.1",
"protein_id": "ENSP00000626238.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 333,
"cds_start": 367,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956179.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Ala123Ser",
"transcript": "ENST00000898460.1",
"protein_id": "ENSP00000568519.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 329,
"cds_start": 367,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898460.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.367G>T",
"hgvs_p": "p.Ala123Ser",
"transcript": "ENST00000956181.1",
"protein_id": "ENSP00000626240.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 281,
"cds_start": 367,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956181.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.154G>T",
"hgvs_p": "p.Ala52Ser",
"transcript": "ENST00000956177.1",
"protein_id": "ENSP00000626236.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 280,
"cds_start": 154,
"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": "ENST00000956177.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.235G>T",
"hgvs_p": "p.Ala79Ser",
"transcript": "ENST00000564615.5",
"protein_id": "ENSP00000455802.2",
"transcript_support_level": 3,
"aa_start": 79,
"aa_end": null,
"aa_length": 225,
"cds_start": 235,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564615.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "c.122-1464G>T",
"hgvs_p": null,
"transcript": "ENST00000565835.5",
"protein_id": "ENSP00000463328.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565835.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.*277G>T",
"hgvs_p": null,
"transcript": "ENST00000426604.7",
"protein_id": "ENSP00000393910.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000426604.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.*51G>T",
"hgvs_p": null,
"transcript": "ENST00000561852.5",
"protein_id": "ENSP00000457744.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000561852.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.*281G>T",
"hgvs_p": null,
"transcript": "ENST00000563064.5",
"protein_id": "ENSP00000457105.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000563064.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.*173G>T",
"hgvs_p": null,
"transcript": "ENST00000564191.5",
"protein_id": "ENSP00000456695.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000564191.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.*239G>T",
"hgvs_p": null,
"transcript": "ENST00000566322.6",
"protein_id": "ENSP00000455446.3",
"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": "ENST00000566322.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.*238G>T",
"hgvs_p": null,
"transcript": "ENST00000568101.5",
"protein_id": "ENSP00000457104.2",
"transcript_support_level": 4,
"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": "ENST00000568101.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0D1",
"gene_hgnc_id": 13724,
"hgvs_c": "n.*277G>T",
"hgvs_p": null,
"transcript": "ENST00000426604.7",
"protein_id": "ENSP00000393910.4",
"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,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "",
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],
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}