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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: 1-156244265-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156244265&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156244265,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024897.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.899C>G",
"hgvs_p": "p.Ala300Gly",
"transcript": "NM_198406.3",
"protein_id": "NP_940798.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 344,
"cds_start": 899,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292291.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198406.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.899C>G",
"hgvs_p": "p.Ala300Gly",
"transcript": "ENST00000292291.10",
"protein_id": "ENSP00000292291.5",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 344,
"cds_start": 899,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198406.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292291.10"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.827C>G",
"hgvs_p": "p.Ala276Gly",
"transcript": "ENST00000368270.2",
"protein_id": "ENSP00000357253.1",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 320,
"cds_start": 827,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368270.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.232C>G",
"hgvs_p": "p.Pro78Ala",
"transcript": "ENST00000623241.3",
"protein_id": "ENSP00000485607.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 211,
"cds_start": 232,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623241.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "n.*241C>G",
"hgvs_p": null,
"transcript": "ENST00000340183.10",
"protein_id": "ENSP00000341926.6",
"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": "ENST00000340183.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "n.1181C>G",
"hgvs_p": null,
"transcript": "ENST00000468632.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000468632.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "n.1179C>G",
"hgvs_p": null,
"transcript": "ENST00000492619.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000492619.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "n.*241C>G",
"hgvs_p": null,
"transcript": "ENST00000340183.10",
"protein_id": "ENSP00000341926.6",
"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": "ENST00000340183.10"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.652C>G",
"hgvs_p": "p.Pro218Ala",
"transcript": "NM_024897.4",
"protein_id": "NP_079173.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 351,
"cds_start": 652,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024897.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.652C>G",
"hgvs_p": "p.Pro218Ala",
"transcript": "ENST00000335852.6",
"protein_id": "ENSP00000338330.1",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 351,
"cds_start": 652,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335852.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.899C>G",
"hgvs_p": "p.Ala300Gly",
"transcript": "NM_001272104.2",
"protein_id": "NP_001259033.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 344,
"cds_start": 899,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272104.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.899C>G",
"hgvs_p": "p.Ala300Gly",
"transcript": "ENST00000882649.1",
"protein_id": "ENSP00000552708.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 344,
"cds_start": 899,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882649.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.899C>G",
"hgvs_p": "p.Ala300Gly",
"transcript": "ENST00000882651.1",
"protein_id": "ENSP00000552710.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 344,
"cds_start": 899,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882651.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.899C>G",
"hgvs_p": "p.Ala300Gly",
"transcript": "ENST00000882653.1",
"protein_id": "ENSP00000552712.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 344,
"cds_start": 899,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882653.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.899C>G",
"hgvs_p": "p.Ala300Gly",
"transcript": "ENST00000955080.1",
"protein_id": "ENSP00000625139.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 344,
"cds_start": 899,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955080.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ala297Gly",
"transcript": "NM_001272105.2",
"protein_id": "NP_001259034.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 341,
"cds_start": 890,
"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_001272105.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ala297Gly",
"transcript": "ENST00000356983.7",
"protein_id": "ENSP00000349474.3",
"transcript_support_level": 2,
"aa_start": 297,
"aa_end": null,
"aa_length": 341,
"cds_start": 890,
"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": "ENST00000356983.7"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ala297Gly",
"transcript": "ENST00000882650.1",
"protein_id": "ENSP00000552709.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 341,
"cds_start": 890,
"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": "ENST00000882650.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ala297Gly",
"transcript": "ENST00000882652.1",
"protein_id": "ENSP00000552711.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 341,
"cds_start": 890,
"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": "ENST00000882652.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ala297Gly",
"transcript": "ENST00000882654.1",
"protein_id": "ENSP00000552713.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 341,
"cds_start": 890,
"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": "ENST00000882654.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala",
"transcript": "NM_001272106.2",
"protein_id": "NP_001259035.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 283,
"cds_start": 448,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272106.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR6",
"gene_hgnc_id": 30132,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala",
"transcript": "ENST00000612424.4",
"protein_id": "ENSP00000482685.1",
"transcript_support_level": 2,
"aa_start": 150,
"aa_end": null,
"aa_length": 283,
"cds_start": 448,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612424.4"
},
{
"aa_ref": "A",
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],
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.11769673228263855,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.0725,
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"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.401,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024897.4",
"gene_symbol": "PAQR6",
"hgnc_id": 30132,
"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}