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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: 9-122984698-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=122984698&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 122984698,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012197.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "NM_012197.4",
"protein_id": "NP_036329.3",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1069,
"cds_start": 364,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373647.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012197.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000373647.9",
"protein_id": "ENSP00000362751.4",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 1069,
"cds_start": 364,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012197.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373647.9"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000870248.1",
"protein_id": "ENSP00000540307.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1103,
"cds_start": 364,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870248.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000941860.1",
"protein_id": "ENSP00000611919.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1103,
"cds_start": 364,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941860.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000941862.1",
"protein_id": "ENSP00000611921.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1100,
"cds_start": 364,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941862.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000941861.1",
"protein_id": "ENSP00000611920.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1095,
"cds_start": 364,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941861.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000941867.1",
"protein_id": "ENSP00000611926.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1087,
"cds_start": 364,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941867.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000941866.1",
"protein_id": "ENSP00000611925.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1076,
"cds_start": 364,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941866.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000870247.1",
"protein_id": "ENSP00000540306.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1069,
"cds_start": 364,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870247.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000870249.1",
"protein_id": "ENSP00000540308.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1069,
"cds_start": 364,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870249.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000941864.1",
"protein_id": "ENSP00000611923.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1069,
"cds_start": 364,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941864.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000941868.1",
"protein_id": "ENSP00000611927.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1061,
"cds_start": 364,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941868.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000919451.1",
"protein_id": "ENSP00000589510.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1044,
"cds_start": 364,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919451.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000941863.1",
"protein_id": "ENSP00000611922.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1044,
"cds_start": 364,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941863.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000919452.1",
"protein_id": "ENSP00000589511.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1001,
"cds_start": 364,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919452.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000941865.1",
"protein_id": "ENSP00000611924.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 929,
"cds_start": 364,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941865.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "XM_011518440.4",
"protein_id": "XP_011516742.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1069,
"cds_start": 364,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518440.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "XM_011518441.3",
"protein_id": "XP_011516743.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1069,
"cds_start": 364,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518441.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "XM_017014567.3",
"protein_id": "XP_016870056.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1069,
"cds_start": 364,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014567.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "XM_017014568.2",
"protein_id": "XP_016870057.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1069,
"cds_start": 364,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014568.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "XM_017014569.2",
"protein_id": "XP_016870058.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1069,
"cds_start": 364,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014569.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1",
"gene_hgnc_id": 17155,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "XM_047423130.1",
"protein_id": "XP_047279086.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1069,
"cds_start": 364,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
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{
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_012197.4",
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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
}