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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: 7-152105247-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=152105247&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 152105247,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001371464.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "NM_022087.4",
"protein_id": "NP_071370.2",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": "ENST00000430044.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022087.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000430044.7",
"protein_id": "ENSP00000395122.2",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": "NM_022087.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430044.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "NM_001371464.1",
"protein_id": "NP_001358393.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 667,
"cds_start": 589,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371464.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "NM_001371458.1",
"protein_id": "NP_001358387.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371458.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "NM_001371459.1",
"protein_id": "NP_001358388.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371459.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "NM_001371460.1",
"protein_id": "NP_001358389.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371460.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "NM_001371461.1",
"protein_id": "NP_001358390.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371461.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "NM_001371462.1",
"protein_id": "NP_001358391.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371462.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "NM_001371463.1",
"protein_id": "NP_001358392.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371463.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000434507.6",
"protein_id": "ENSP00000416787.1",
"transcript_support_level": 2,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434507.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000880711.1",
"protein_id": "ENSP00000550770.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880711.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000880712.1",
"protein_id": "ENSP00000550771.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880712.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000880714.1",
"protein_id": "ENSP00000550773.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880714.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000880715.1",
"protein_id": "ENSP00000550774.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880715.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000880716.1",
"protein_id": "ENSP00000550775.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880716.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000880717.1",
"protein_id": "ENSP00000550776.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880717.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000880718.1",
"protein_id": "ENSP00000550777.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880718.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000880719.1",
"protein_id": "ENSP00000550778.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880719.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000880720.1",
"protein_id": "ENSP00000550779.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 2868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880720.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000880721.1",
"protein_id": "ENSP00000550780.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 3058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880721.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT11",
"gene_hgnc_id": 19875,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Asp197His",
"transcript": "ENST00000880722.1",
"protein_id": "ENSP00000550781.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 608,
"cds_start": 589,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880722.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
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"verdict": "Uncertain_significance",
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"gene_symbol": "LOC731075",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3415-3864C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}