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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: 16-2528375-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2528375&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AMDHD2",
"hgnc_id": 24262,
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001145815.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1441,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8925842642784119,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 409,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1230,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001330449.2",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000293971.11",
"protein_coding": true,
"protein_id": "NP_001317378.1",
"strand": true,
"transcript": "NM_001330449.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 409,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1230,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000293971.11",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330449.2",
"protein_coding": true,
"protein_id": "ENSP00000293971.6",
"strand": true,
"transcript": "ENST00000293971.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 439,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3273,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1320,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000302956.8",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000307481.4",
"strand": true,
"transcript": "ENST00000302956.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1785,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001145815.2",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139287.1",
"strand": true,
"transcript": "NM_001145815.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1785,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000413459.7",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391596.3",
"strand": true,
"transcript": "ENST00000413459.7",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 440,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1323,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000872243.1",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542302.1",
"strand": true,
"transcript": "ENST00000872243.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 439,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1320,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_015944.4",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057028.2",
"strand": true,
"transcript": "NM_015944.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 436,
"aa_ref": "P",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3271,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1311,
"cds_start": 848,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000872245.1",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.848C>G",
"hgvs_p": "p.Pro283Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542304.1",
"strand": true,
"transcript": "ENST00000872245.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 410,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3201,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1233,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000872244.1",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542303.1",
"strand": true,
"transcript": "ENST00000872244.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 386,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3103,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1161,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001410943.1",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397872.1",
"strand": true,
"transcript": "NM_001410943.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 386,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1161,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000648227.1",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498048.1",
"strand": true,
"transcript": "ENST00000648227.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 375,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3088,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1128,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000872246.1",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542305.1",
"strand": true,
"transcript": "ENST00000872246.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 360,
"aa_ref": "P",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 772,
"cds_end": null,
"cds_length": 1083,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872247.1",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.710C>G",
"hgvs_p": "p.Pro237Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542306.1",
"strand": true,
"transcript": "ENST00000872247.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 352,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1291,
"cdna_start": 921,
"cds_end": null,
"cds_length": 1059,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000915809.1",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Pro286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585868.1",
"strand": true,
"transcript": "ENST00000915809.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 299,
"aa_ref": "P",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 940,
"cdna_start": 682,
"cds_end": null,
"cds_length": 902,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000566706.5",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.644C>G",
"hgvs_p": "p.Pro215Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456898.1",
"strand": true,
"transcript": "ENST00000566706.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 295,
"aa_ref": "P",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 924,
"cdna_start": 678,
"cds_end": null,
"cds_length": 890,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000569879.5",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.644C>G",
"hgvs_p": "p.Pro215Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457398.1",
"strand": true,
"transcript": "ENST00000569879.5",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 268,
"aa_ref": "P",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1482,
"cdna_start": 822,
"cds_end": null,
"cds_length": 809,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000568263.5",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Pro50Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457136.1",
"strand": true,
"transcript": "ENST00000568263.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 276,
"aa_ref": "P",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 493,
"cds_end": null,
"cds_length": 831,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017023266.3",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.368C>G",
"hgvs_p": "p.Pro123Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878755.1",
"strand": true,
"transcript": "XM_017023266.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 246,
"aa_ref": "P",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 493,
"cds_end": null,
"cds_length": 741,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047434190.1",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.368C>G",
"hgvs_p": "p.Pro123Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290146.1",
"strand": true,
"transcript": "XM_047434190.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 203,
"aa_ref": "P",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": 808,
"cds_end": null,
"cds_length": 612,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017023267.3",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "c.149C>G",
"hgvs_p": "p.Pro50Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878756.1",
"strand": true,
"transcript": "XM_017023267.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 701,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000561487.1",
"gene_hgnc_id": 24262,
"gene_symbol": "AMDHD2",
"hgvs_c": "n.306C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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