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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: 12-47791299-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=47791299&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 47791299,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001368046.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1943C>G",
"hgvs_p": "p.Ala648Gly",
"transcript": "NM_015401.5",
"protein_id": "NP_056216.2",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 991,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000080059.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015401.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1943C>G",
"hgvs_p": "p.Ala648Gly",
"transcript": "ENST00000080059.12",
"protein_id": "ENSP00000080059.7",
"transcript_support_level": 1,
"aa_start": 648,
"aa_end": null,
"aa_length": 991,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015401.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000080059.12"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1994C>G",
"hgvs_p": "p.Ala665Gly",
"transcript": "ENST00000380610.8",
"protein_id": "ENSP00000369984.4",
"transcript_support_level": 2,
"aa_start": 665,
"aa_end": null,
"aa_length": 1014,
"cds_start": 1994,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380610.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1832C>G",
"hgvs_p": "p.Ala611Gly",
"transcript": "ENST00000354334.7",
"protein_id": "ENSP00000351326.3",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 954,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354334.7"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1943C>G",
"hgvs_p": "p.Ala648Gly",
"transcript": "ENST00000903438.1",
"protein_id": "ENSP00000573497.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 1019,
"cds_start": 1943,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903438.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1943C>G",
"hgvs_p": "p.Ala648Gly",
"transcript": "ENST00000903432.1",
"protein_id": "ENSP00000573491.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 1011,
"cds_start": 1943,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903432.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1985C>G",
"hgvs_p": "p.Ala662Gly",
"transcript": "NM_001368046.1",
"protein_id": "NP_001354975.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 1005,
"cds_start": 1985,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368046.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1892C>G",
"hgvs_p": "p.Ala631Gly",
"transcript": "NM_001308090.2",
"protein_id": "NP_001295019.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 974,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308090.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1892C>G",
"hgvs_p": "p.Ala631Gly",
"transcript": "ENST00000552960.5",
"protein_id": "ENSP00000448532.1",
"transcript_support_level": 2,
"aa_start": 631,
"aa_end": null,
"aa_length": 974,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552960.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "ENST00000903431.1",
"protein_id": "ENSP00000573490.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 967,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903431.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "ENST00000903435.1",
"protein_id": "ENSP00000573494.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 967,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903435.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1859C>G",
"hgvs_p": "p.Ala620Gly",
"transcript": "ENST00000903434.1",
"protein_id": "ENSP00000573493.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 963,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903434.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1832C>G",
"hgvs_p": "p.Ala611Gly",
"transcript": "NM_001098416.4",
"protein_id": "NP_001091886.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 954,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098416.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1826C>G",
"hgvs_p": "p.Ala609Gly",
"transcript": "ENST00000427332.6",
"protein_id": "ENSP00000404394.2",
"transcript_support_level": 5,
"aa_start": 609,
"aa_end": null,
"aa_length": 952,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427332.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1823C>G",
"hgvs_p": "p.Ala608Gly",
"transcript": "ENST00000903437.1",
"protein_id": "ENSP00000573496.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 951,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903437.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1613C>G",
"hgvs_p": "p.Ala538Gly",
"transcript": "ENST00000903436.1",
"protein_id": "ENSP00000573495.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 881,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903436.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1502C>G",
"hgvs_p": "p.Ala501Gly",
"transcript": "ENST00000903433.1",
"protein_id": "ENSP00000573492.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 844,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903433.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.263C>G",
"hgvs_p": "p.Ala88Gly",
"transcript": "ENST00000548080.5",
"protein_id": "ENSP00000446538.1",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 383,
"cds_start": 263,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548080.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.2075C>G",
"hgvs_p": "p.Ala692Gly",
"transcript": "XM_011538481.2",
"protein_id": "XP_011536783.2",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2075,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538481.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.2075C>G",
"hgvs_p": "p.Ala692Gly",
"transcript": "XM_047428978.1",
"protein_id": "XP_047284934.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2075,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428978.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1964C>G",
"hgvs_p": "p.Ala655Gly",
"transcript": "XM_011538480.1",
"protein_id": "XP_011536782.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 998,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538480.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.1964C>G",
"hgvs_p": "p.Ala655Gly",
"transcript": "XM_024449018.2",
"protein_id": "XP_024304786.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 998,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
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"bayesdelnoaf_score": -0.36,
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{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}