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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: 17-7583881-GGA-CGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7583881&ref=GGA&alt=CGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MPDU1",
"hgnc_id": 7207,
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004870.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MPDU1-AS1",
"hgnc_id": 40379,
"hgvs_c": "n.216_218delTCCinsGCG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000687005.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "R",
"aa_end": null,
"aa_length": 247,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 30,
"cds_end": null,
"cds_length": 744,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004870.4",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000250124.11",
"protein_coding": true,
"protein_id": "NP_004861.2",
"strand": true,
"transcript": "NM_004870.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 247,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 30,
"cds_end": null,
"cds_length": 744,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000250124.11",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004870.4",
"protein_coding": true,
"protein_id": "ENSP00000250124.6",
"strand": true,
"transcript": "ENST00000250124.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 244,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 34,
"cds_end": null,
"cds_length": 735,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853390.1",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523449.1",
"strand": true,
"transcript": "ENST00000853390.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 239,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1429,
"cdna_start": 46,
"cds_end": null,
"cds_length": 720,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853388.1",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523447.1",
"strand": true,
"transcript": "ENST00000853388.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 236,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1407,
"cdna_start": 74,
"cds_end": null,
"cds_length": 711,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915186.1",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585245.1",
"strand": true,
"transcript": "ENST00000915186.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 230,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 34,
"cds_end": null,
"cds_length": 693,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853387.1",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523446.1",
"strand": true,
"transcript": "ENST00000853387.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 225,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1342,
"cdna_start": 30,
"cds_end": null,
"cds_length": 678,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853389.1",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523448.1",
"strand": true,
"transcript": "ENST00000853389.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 224,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": 28,
"cds_end": null,
"cds_length": 675,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915187.1",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585246.1",
"strand": true,
"transcript": "ENST00000915187.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 223,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1317,
"cdna_start": 23,
"cds_end": null,
"cds_length": 672,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915189.1",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585248.1",
"strand": true,
"transcript": "ENST00000915189.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 30,
"cds_end": null,
"cds_length": 663,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853391.1",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523450.1",
"strand": true,
"transcript": "ENST00000853391.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 192,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": 20,
"cds_end": null,
"cds_length": 581,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000579445.5",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464158.1",
"strand": true,
"transcript": "ENST00000579445.5",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 192,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1563,
"cdna_start": 235,
"cds_end": null,
"cds_length": 579,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330073.1",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317002.1",
"strand": true,
"transcript": "NM_001330073.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 192,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1125,
"cdna_start": 54,
"cds_end": null,
"cds_length": 579,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396501.8",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379758.4",
"strand": true,
"transcript": "ENST00000396501.8",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 186,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 888,
"cdna_start": 29,
"cds_end": null,
"cds_length": 561,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423172.6",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414071.2",
"strand": true,
"transcript": "ENST00000423172.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 174,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": 48,
"cds_end": null,
"cds_length": 525,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915185.1",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585244.1",
"strand": true,
"transcript": "ENST00000915185.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 153,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 475,
"cdna_start": 30,
"cds_end": null,
"cds_length": 464,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000584378.5",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462839.1",
"strand": true,
"transcript": "ENST00000584378.5",
"transcript_support_level": 4
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 152,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1115,
"cdna_start": 34,
"cds_end": null,
"cds_length": 459,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915188.1",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585247.1",
"strand": true,
"transcript": "ENST00000915188.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 116,
"aa_ref": "G",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 438,
"cdna_start": 7,
"cds_end": null,
"cds_length": 351,
"cds_start": 7,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585217.5",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.7_9delGGAinsCGC",
"hgvs_p": "p.Gly3Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463037.1",
"strand": true,
"transcript": "ENST00000585217.5",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 52,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 728,
"cdna_start": 353,
"cds_end": null,
"cds_length": 159,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000582151.1",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462500.1",
"strand": true,
"transcript": "ENST00000582151.1",
"transcript_support_level": 6
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 260,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1502,
"cdna_start": 235,
"cds_end": null,
"cds_length": 783,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006721597.3",
"gene_hgnc_id": 7207,
"gene_symbol": "MPDU1",
"hgvs_c": "c.19_21delGGAinsCGC",
"hgvs_p": "p.Gly7Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721660.1",
"strand": true,
"transcript": "XM_006721597.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 259,
"aa_ref": "G",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 235,
"cds_end": null,
"cds_length": 780,
"cds_start": 19,
"consequences": [
"missense_variant"
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