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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: 1-169132807-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=169132807&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 169132807,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013330.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"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": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Phe370Cys",
"transcript": "NM_013330.5",
"protein_id": "NP_037462.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 376,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367811.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013330.5"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"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": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Phe370Cys",
"transcript": "ENST00000367811.8",
"protein_id": "ENSP00000356785.3",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 376,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013330.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367811.8"
},
{
"aa_ref": "F",
"aa_alt": "C",
"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": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "c.1190T>G",
"hgvs_p": "p.Phe397Cys",
"transcript": "ENST00000961401.1",
"protein_id": "ENSP00000631460.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 403,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961401.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"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": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "c.1058T>G",
"hgvs_p": "p.Phe353Cys",
"transcript": "ENST00000856223.1",
"protein_id": "ENSP00000526282.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 359,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856223.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"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": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "c.1001T>G",
"hgvs_p": "p.Phe334Cys",
"transcript": "NM_197972.3",
"protein_id": "NP_932076.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 340,
"cds_start": 1001,
"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": "NM_197972.3"
},
{
"aa_ref": "F",
"aa_alt": "C",
"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": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "c.1001T>G",
"hgvs_p": "p.Phe334Cys",
"transcript": "ENST00000472647.5",
"protein_id": "ENSP00000433341.1",
"transcript_support_level": 2,
"aa_start": 334,
"aa_end": null,
"aa_length": 340,
"cds_start": 1001,
"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": "ENST00000472647.5"
},
{
"aa_ref": "F",
"aa_alt": "C",
"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": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "c.1001T>G",
"hgvs_p": "p.Phe334Cys",
"transcript": "ENST00000924912.1",
"protein_id": "ENSP00000594971.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 340,
"cds_start": 1001,
"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": "ENST00000924912.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"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": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "c.1001T>G",
"hgvs_p": "p.Phe334Cys",
"transcript": "ENST00000961402.1",
"protein_id": "ENSP00000631461.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 340,
"cds_start": 1001,
"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": "ENST00000961402.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"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": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "c.998T>G",
"hgvs_p": "p.Phe333Cys",
"transcript": "ENST00000856221.1",
"protein_id": "ENSP00000526280.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 339,
"cds_start": 998,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856221.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"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": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "c.767T>G",
"hgvs_p": "p.Phe256Cys",
"transcript": "ENST00000856222.1",
"protein_id": "ENSP00000526281.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 262,
"cds_start": 767,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856222.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"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": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "c.464T>G",
"hgvs_p": "p.Phe155Cys",
"transcript": "ENST00000924913.1",
"protein_id": "ENSP00000594972.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 161,
"cds_start": 464,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924913.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.*1252A>C",
"hgvs_p": null,
"transcript": "ENST00000689522.1",
"protein_id": "ENSP00000509039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689522.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "n.148T>G",
"hgvs_p": null,
"transcript": "ENST00000493481.1",
"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": "ENST00000493481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "n.*152T>G",
"hgvs_p": null,
"transcript": "ENST00000525440.5",
"protein_id": "ENSP00000431467.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525440.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "n.79T>G",
"hgvs_p": null,
"transcript": "ENST00000530739.5",
"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": "pseudogene",
"feature": "ENST00000530739.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "n.1259T>G",
"hgvs_p": null,
"transcript": "NR_104229.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104229.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "NME7",
"gene_hgnc_id": 20461,
"hgvs_c": "n.*152T>G",
"hgvs_p": null,
"transcript": "ENST00000525440.5",
"protein_id": "ENSP00000431467.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525440.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "n.838+1326A>C",
"hgvs_p": null,
"transcript": "ENST00000688755.1",
"protein_id": "ENSP00000508725.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688755.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.*1252A>C",
"hgvs_p": null,
"transcript": "NM_001677.4",
"protein_id": "NP_001668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367815.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001677.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.*1252A>C",
"hgvs_p": null,
"transcript": "ENST00000367815.9",
"protein_id": "ENSP00000356789.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001677.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367815.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.*1252A>C",
"hgvs_p": null,
"transcript": "ENST00000367816.5",
"protein_id": "ENSP00000356790.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367816.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP1B1",
"gene_hgnc_id": 804,
"hgvs_c": "c.*1252A>C",
"hgvs_p": null,
"transcript": "ENST00000856530.1",
"protein_id": "ENSP00000526589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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],
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"allele_count_reference_population": 0,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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{
"score": 4,
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
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{
"score": 4,
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"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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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
}