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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: 11-18733320-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18733320&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PTPN5",
"hgnc_id": 9657,
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Ser378Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006906.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "IGSF22-AS1",
"hgnc_id": 55511,
"hgvs_c": "n.730-7104C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000527285.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1344,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17536184191703796,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 565,
"aa_ref": "S",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_006906.2",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Ser378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358540.7",
"protein_coding": true,
"protein_id": "NP_008837.1",
"strand": false,
"transcript": "NM_006906.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 565,
"aa_ref": "S",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000358540.7",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Ser378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006906.2",
"protein_coding": true,
"protein_id": "ENSP00000351342.2",
"strand": false,
"transcript": "ENST00000358540.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 541,
"aa_ref": "S",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1061,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000396168.1",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Ser354Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379471.1",
"strand": false,
"transcript": "ENST00000396168.1",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 590,
"aa_ref": "S",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1208,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000935333.1",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Ser403Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605392.1",
"strand": false,
"transcript": "ENST00000935333.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 565,
"aa_ref": "S",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_032781.4",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Ser378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_116170.3",
"strand": false,
"transcript": "NM_032781.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 565,
"aa_ref": "S",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 1516,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856224.1",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Ser378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526283.1",
"strand": false,
"transcript": "ENST00000856224.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 552,
"aa_ref": "S",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2842,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856226.1",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Ser378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526285.1",
"strand": false,
"transcript": "ENST00000856226.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 541,
"aa_ref": "S",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1061,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001278238.2",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Ser354Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265167.1",
"strand": false,
"transcript": "NM_001278238.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 533,
"aa_ref": "S",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001039970.2",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Ser346Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035059.1",
"strand": false,
"transcript": "NM_001039970.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 533,
"aa_ref": "S",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3873,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001278236.1",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Ser346Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265165.1",
"strand": false,
"transcript": "NM_001278236.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 533,
"aa_ref": "S",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3871,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000396170.5",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Ser346Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379473.1",
"strand": false,
"transcript": "ENST00000396170.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 533,
"aa_ref": "S",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1037,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000957011.1",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Ser346Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627070.1",
"strand": false,
"transcript": "ENST00000957011.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 528,
"aa_ref": "S",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000957010.1",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Ser378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627069.1",
"strand": false,
"transcript": "ENST00000957010.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 509,
"aa_ref": "S",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2862,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1530,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001278239.2",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Ser322Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265168.1",
"strand": false,
"transcript": "NM_001278239.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 493,
"aa_ref": "S",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000957013.1",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Ser378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627072.1",
"strand": false,
"transcript": "ENST00000957013.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 369,
"aa_ref": "S",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1110,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000477854.5",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Ser182Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435056.1",
"strand": false,
"transcript": "ENST00000477854.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
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"aa_length": 719,
"aa_ref": "S",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3853,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017018434.3",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Ser378Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873923.1",
"strand": false,
"transcript": "XM_017018434.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_ref": "S",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3808,
"cdna_start": 2398,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017018435.3",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Ser378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873924.1",
"strand": false,
"transcript": "XM_017018435.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_ref": "S",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3720,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1061,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017018436.2",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Ser354Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873925.1",
"strand": false,
"transcript": "XM_017018436.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 687,
"aa_ref": "S",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3757,
"cdna_start": 2347,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017018437.2",
"gene_hgnc_id": 9657,
"gene_symbol": "PTPN5",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Ser346Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873926.1",
"strand": false,
"transcript": "XM_017018437.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 680,
"aa_ref": "S",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 1178,
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