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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: 7-151572664-C-CTAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151572664&ref=C&alt=CTAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151572664,
"ref": "C",
"alt": "CTAA",
"effect": "conservative_inframe_insertion,splice_region_variant",
"transcript": "NM_001407021.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1050_1051insTTA",
"hgvs_p": "p.Arg350_Glu351insLeu",
"transcript": "NM_016203.4",
"protein_id": "NP_057287.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 569,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287878.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016203.4"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1050_1051insTTA",
"hgvs_p": "p.Arg350_Glu351insLeu",
"transcript": "ENST00000287878.9",
"protein_id": "ENSP00000287878.3",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 569,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016203.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287878.9"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.918_919insTTA",
"hgvs_p": "p.Arg306_Glu307insLeu",
"transcript": "ENST00000392801.6",
"protein_id": "ENSP00000376549.2",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 525,
"cds_start": 918,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392801.6"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.327_328insTTA",
"hgvs_p": "p.Arg109_Glu110insLeu",
"transcript": "ENST00000418337.6",
"protein_id": "ENSP00000387386.2",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 328,
"cds_start": 327,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418337.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "n.*290_*291insTTA",
"hgvs_p": null,
"transcript": "ENST00000488258.5",
"protein_id": "ENSP00000420783.1",
"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": "ENST00000488258.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "n.*290_*291insTTA",
"hgvs_p": null,
"transcript": "ENST00000488258.5",
"protein_id": "ENSP00000420783.1",
"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": "ENST00000488258.5"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1050_1051insTTA",
"hgvs_p": "p.Arg350_Glu351insLeu",
"transcript": "NM_001407021.1",
"protein_id": "NP_001393950.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 619,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407021.1"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1047_1048insTTA",
"hgvs_p": "p.Arg349_Glu350insLeu",
"transcript": "NM_001407022.1",
"protein_id": "NP_001393951.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 618,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407022.1"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1047_1048insTTA",
"hgvs_p": "p.Arg349_Glu350insLeu",
"transcript": "NM_001407023.1",
"protein_id": "NP_001393952.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 568,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407023.1"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1047_1048insTTA",
"hgvs_p": "p.Arg349_Glu350insLeu",
"transcript": "ENST00000652321.2",
"protein_id": "ENSP00000498886.2",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 568,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652321.2"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1044_1045insTTA",
"hgvs_p": "p.Arg348_Glu349insLeu",
"transcript": "ENST00000867883.1",
"protein_id": "ENSP00000537942.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 567,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867883.1"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1041_1042insTTA",
"hgvs_p": "p.Arg347_Glu348insLeu",
"transcript": "ENST00000867885.1",
"protein_id": "ENSP00000537944.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 566,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867885.1"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.918_919insTTA",
"hgvs_p": "p.Arg306_Glu307insLeu",
"transcript": "NM_001040633.2",
"protein_id": "NP_001035723.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 525,
"cds_start": 918,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040633.2"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.918_919insTTA",
"hgvs_p": "p.Arg306_Glu307insLeu",
"transcript": "NM_001407024.1",
"protein_id": "NP_001393953.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 525,
"cds_start": 918,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407024.1"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.918_919insTTA",
"hgvs_p": "p.Arg306_Glu307insLeu",
"transcript": "ENST00000651764.1",
"protein_id": "ENSP00000498796.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 525,
"cds_start": 918,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651764.1"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.918_919insTTA",
"hgvs_p": "p.Arg306_Glu307insLeu",
"transcript": "ENST00000652159.1",
"protein_id": "ENSP00000499025.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 525,
"cds_start": 918,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652159.1"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.915_916insTTA",
"hgvs_p": "p.Arg305_Glu306insLeu",
"transcript": "NM_001407026.1",
"protein_id": "NP_001393955.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 524,
"cds_start": 915,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407026.1"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.915_916insTTA",
"hgvs_p": "p.Arg305_Glu306insLeu",
"transcript": "NM_001407027.1",
"protein_id": "NP_001393956.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 524,
"cds_start": 915,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407027.1"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.915_916insTTA",
"hgvs_p": "p.Arg305_Glu306insLeu",
"transcript": "ENST00000652047.1",
"protein_id": "ENSP00000499111.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 524,
"cds_start": 915,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652047.1"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.909_910insTTA",
"hgvs_p": "p.Arg303_Glu304insLeu",
"transcript": "ENST00000867884.1",
"protein_id": "ENSP00000537943.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 522,
"cds_start": 909,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867884.1"
},
{
"aa_ref": "R",
"aa_alt": "RL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.678_679insTTA",
"hgvs_p": "p.Arg226_Glu227insLeu",
"transcript": "NM_001407028.1",
"protein_id": "NP_001393957.1",
"transcript_support_level": null,
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"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.318,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001407021.1",
"gene_symbol": "PRKAG2",
"hgnc_id": 9386,
"effects": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1050_1051insTTA",
"hgvs_p": "p.Arg350_Glu351insLeu"
}
],
"clinvar_disease": "Hypertrophic cardiomyopathy 6",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hypertrophic cardiomyopathy 6",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}