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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: 12-53297875-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53297875&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53297875,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002624.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "c.233A>G",
"hgvs_p": "p.Asp78Gly",
"transcript": "NM_002624.4",
"protein_id": "NP_002615.2",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 154,
"cds_start": 233,
"cds_end": null,
"cds_length": 465,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 596,
"mane_select": "ENST00000334478.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002624.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "c.233A>G",
"hgvs_p": "p.Asp78Gly",
"transcript": "ENST00000334478.9",
"protein_id": "ENSP00000334188.4",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 154,
"cds_start": 233,
"cds_end": null,
"cds_length": 465,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 596,
"mane_select": "NM_002624.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334478.9"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "c.233A>G",
"hgvs_p": "p.Asp78Gly",
"transcript": "ENST00000551018.5",
"protein_id": "ENSP00000447942.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 154,
"cds_start": 233,
"cds_end": null,
"cds_length": 465,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551018.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "c.98A>G",
"hgvs_p": "p.Asp33Gly",
"transcript": "ENST00000351500.7",
"protein_id": "ENSP00000266964.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 109,
"cds_start": 98,
"cds_end": null,
"cds_length": 330,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351500.7"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "n.201A>G",
"hgvs_p": null,
"transcript": "ENST00000243040.10",
"protein_id": "ENSP00000243040.6",
"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": 564,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000243040.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "n.305A>G",
"hgvs_p": null,
"transcript": "ENST00000553171.2",
"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": 904,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000553171.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Asp80Gly",
"transcript": "ENST00000549759.2",
"protein_id": "ENSP00000455296.2",
"transcript_support_level": 3,
"aa_start": 80,
"aa_end": null,
"aa_length": 156,
"cds_start": 239,
"cds_end": null,
"cds_length": 471,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549759.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "c.98A>G",
"hgvs_p": "p.Asp33Gly",
"transcript": "NM_145897.3",
"protein_id": "NP_665904.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 109,
"cds_start": 98,
"cds_end": null,
"cds_length": 330,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145897.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "c.26A>G",
"hgvs_p": "p.Asp9Gly",
"transcript": "ENST00000547130.6",
"protein_id": "ENSP00000449388.2",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 85,
"cds_start": 26,
"cds_end": null,
"cds_length": 258,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547130.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "c.26A>G",
"hgvs_p": "p.Asp9Gly",
"transcript": "ENST00000628881.2",
"protein_id": "ENSP00000486843.2",
"transcript_support_level": 3,
"aa_start": 9,
"aa_end": null,
"aa_length": 85,
"cds_start": 26,
"cds_end": null,
"cds_length": 258,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628881.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "c.-133A>G",
"hgvs_p": null,
"transcript": "ENST00000552742.6",
"protein_id": "ENSP00000450380.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 41,
"cds_start": null,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552742.6"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "c.73-170A>G",
"hgvs_p": null,
"transcript": "ENST00000550846.5",
"protein_id": "ENSP00000454489.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550846.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "c.176-1394A>G",
"hgvs_p": null,
"transcript": "ENST00000935332.1",
"protein_id": "ENSP00000605391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935332.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "n.88A>G",
"hgvs_p": null,
"transcript": "ENST00000548984.1",
"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": 541,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000548984.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "n.624A>G",
"hgvs_p": null,
"transcript": "ENST00000550069.2",
"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": 946,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000550069.2"
},
{
"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": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "n.890A>G",
"hgvs_p": null,
"transcript": "ENST00000550513.1",
"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": 939,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000550513.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "n.*106A>G",
"hgvs_p": null,
"transcript": "ENST00000550880.5",
"protein_id": "ENSP00000450068.1",
"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": 595,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000550880.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "n.925A>G",
"hgvs_p": null,
"transcript": "ENST00000550964.6",
"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": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000550964.6"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "n.1647A>G",
"hgvs_p": null,
"transcript": "ENST00000552341.5",
"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": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000552341.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "n.687A>G",
"hgvs_p": null,
"transcript": "ENST00000552548.6",
"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": 948,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000552548.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFDN5",
"gene_hgnc_id": 8869,
"hgvs_c": "n.258A>G",
"hgvs_p": null,
"transcript": "ENST00000676468.1",
"protein_id": "ENSP00000504615.1",
"transcript_support_level": null,
"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": 640,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676468.1"
},
{
"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": "ENSG00000288663",
"gene_hgnc_id": null,
"hgvs_c": "n.231A>G",
"hgvs_p": null,
"transcript": "ENST00000676527.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676527.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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],
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"allele_count_reference_population": 0,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"PP3"
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"verdict": "Uncertain_significance",
"transcript": "NM_002624.4",
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"effects": [
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"inheritance_mode": "",
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{
"score": 3,
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000676527.1",
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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
}