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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: 9-110048735-T-TCCCCCGGAGTCTCCTGGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=110048735&ref=T&alt=TCCCCCGGAGTCTCCTGGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM4"
],
"effects": [
"conservative_inframe_insertion"
],
"gene_symbol": "PALM2AKAP2",
"hgnc_id": 33529,
"hgvs_c": "c.64_81dupTCTCCTGGACCCCCGGAG",
"hgvs_p": "p.Ser22_Glu27dup",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001198656.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_score": 2,
"allele_count_reference_population": 52,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCCCCCGGAGTCTCCTGGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "SPGPPER",
"aa_end": null,
"aa_length": 961,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4400,
"cdna_start": 184,
"cds_end": null,
"cds_length": 2886,
"cds_start": 82,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000434623.6",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.64_81dupTCTCCTGGACCCCCGGAG",
"hgvs_p": "p.Ser22_Glu27dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404782.2",
"strand": true,
"transcript": "ENST00000434623.6",
"transcript_support_level": 1
},
{
"aa_alt": "SPGPPER",
"aa_end": null,
"aa_length": 948,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6866,
"cdna_start": 86,
"cds_end": null,
"cds_length": 2847,
"cds_start": 82,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000374525.5",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.64_81dupTCTCCTGGACCCCCGGAG",
"hgvs_p": "p.Ser22_Glu27dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363649.1",
"strand": true,
"transcript": "ENST00000374525.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7618,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007203.5",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.582+32724_582+32741dupTCTCCTGGACCCCCGGAG",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374530.8",
"protein_coding": true,
"protein_id": "NP_009134.1",
"strand": true,
"transcript": "NM_007203.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7618,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374530.8",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.582+32724_582+32741dupTCTCCTGGACCCCCGGAG",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007203.5",
"protein_coding": true,
"protein_id": "ENSP00000363654.3",
"strand": true,
"transcript": "ENST00000374530.8",
"transcript_support_level": 2
},
{
"aa_alt": "SPGPPER",
"aa_end": null,
"aa_length": 961,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7003,
"cdna_start": 184,
"cds_end": null,
"cds_length": 2886,
"cds_start": 82,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001198656.1",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.64_81dupTCTCCTGGACCCCCGGAG",
"hgvs_p": "p.Ser22_Glu27dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185585.1",
"strand": true,
"transcript": "NM_001198656.1",
"transcript_support_level": null
},
{
"aa_alt": "SPGPPER",
"aa_end": null,
"aa_length": 948,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6964,
"cdna_start": 184,
"cds_end": null,
"cds_length": 2847,
"cds_start": 82,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001004065.4",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.64_81dupTCTCCTGGACCCCCGGAG",
"hgvs_p": "p.Ser22_Glu27dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001004065.2",
"strand": true,
"transcript": "NM_001004065.4",
"transcript_support_level": null
},
{
"aa_alt": "SPGPPER",
"aa_end": null,
"aa_length": 863,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6785,
"cdna_start": 184,
"cds_end": null,
"cds_length": 2592,
"cds_start": 82,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423421.1",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.64_81dupTCTCCTGGACCCCCGGAG",
"hgvs_p": "p.Ser22_Glu27dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279377.1",
"strand": true,
"transcript": "XM_047423421.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1090,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7579,
"cdna_start": null,
"cds_end": null,
"cds_length": 3273,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_147150.3",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.582+32724_582+32741dupTCTCCTGGACCCCCGGAG",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_671492.1",
"strand": true,
"transcript": "NM_147150.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1090,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": null,
"cds_end": null,
"cds_length": 3273,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000302798.7",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.582+32724_582+32741dupTCTCCTGGACCCCCGGAG",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000305861.7",
"strand": true,
"transcript": "ENST00000302798.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1090,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7369,
"cdna_start": null,
"cds_end": null,
"cds_length": 3273,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879960.1",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.582+32724_582+32741dupTCTCCTGGACCCCCGGAG",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550019.1",
"strand": true,
"transcript": "ENST00000879960.1",
"transcript_support_level": null
},
{
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"aa_length": 432,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1351,
"cdna_start": null,
"cds_end": null,
"cds_length": 1301,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000413420.5",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.1278+32724_1278+32741dupTCTCCTGGACCCCCGGAG",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000397839.1",
"strand": true,
"transcript": "ENST00000413420.5",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "XM_047423410.1",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.1278+32724_1278+32741dupTCTCCTGGACCCCCGGAG",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047279366.1",
"strand": true,
"transcript": "XM_047423410.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047423411.1",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.1278+32724_1278+32741dupTCTCCTGGACCCCCGGAG",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047279367.1",
"strand": true,
"transcript": "XM_047423411.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_047423412.1",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.1176+32724_1176+32741dupTCTCCTGGACCCCCGGAG",
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"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047279368.1",
"strand": true,
"transcript": "XM_047423412.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "XM_047423413.1",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.1176+32724_1176+32741dupTCTCCTGGACCCCCGGAG",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047279369.1",
"strand": true,
"transcript": "XM_047423413.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8096,
"cdna_start": null,
"cds_end": null,
"cds_length": 3714,
"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047423414.1",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.1278+32724_1278+32741dupTCTCCTGGACCCCCGGAG",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047279370.1",
"strand": true,
"transcript": "XM_047423414.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "XM_047423415.1",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.1176+32724_1176+32741dupTCTCCTGGACCCCCGGAG",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047279371.1",
"strand": true,
"transcript": "XM_047423415.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "XM_047423416.1",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.480+32724_480+32741dupTCTCCTGGACCCCCGGAG",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047279372.1",
"strand": true,
"transcript": "XM_047423416.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047423417.1",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.480+32724_480+32741dupTCTCCTGGACCCCCGGAG",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279373.1",
"strand": true,
"transcript": "XM_047423417.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1005,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7400,
"cdna_start": null,
"cds_end": null,
"cds_length": 3018,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047423418.1",
"gene_hgnc_id": 33529,
"gene_symbol": "PALM2AKAP2",
"hgvs_c": "c.582+32724_582+32741dupTCTCCTGGACCCCCGGAG",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279374.1",
"strand": true,
"transcript": "XM_047423418.1",
"transcript_support_level": null
},
{
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