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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: 6-130052980-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=130052980&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 130052980,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032438.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Asp191His",
"transcript": "NM_032438.4",
"protein_id": "NP_115814.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 780,
"cds_start": 571,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "ENST00000361794.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032438.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Asp191His",
"transcript": "ENST00000361794.7",
"protein_id": "ENSP00000354526.2",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 780,
"cds_start": 571,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "NM_032438.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361794.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "ENST00000533560.5",
"protein_id": "ENSP00000437185.1",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 755,
"cds_start": 496,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533560.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.676G>C",
"hgvs_p": "p.Asp226His",
"transcript": "ENST00000858931.1",
"protein_id": "ENSP00000528990.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 815,
"cds_start": 676,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 3334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858931.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.676G>C",
"hgvs_p": "p.Asp226His",
"transcript": "ENST00000966136.1",
"protein_id": "ENSP00000636195.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 815,
"cds_start": 676,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966136.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Asp191His",
"transcript": "ENST00000368136.3",
"protein_id": "ENSP00000357118.2",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 780,
"cds_start": 571,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368136.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Asp191His",
"transcript": "ENST00000858923.1",
"protein_id": "ENSP00000528982.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 780,
"cds_start": 571,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 4320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858923.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Asp191His",
"transcript": "ENST00000858926.1",
"protein_id": "ENSP00000528985.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 780,
"cds_start": 571,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 4328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858926.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Asp191His",
"transcript": "ENST00000858929.1",
"protein_id": "ENSP00000528988.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 780,
"cds_start": 571,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858929.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Asp191His",
"transcript": "ENST00000858930.1",
"protein_id": "ENSP00000528989.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 780,
"cds_start": 571,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858930.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Asp191His",
"transcript": "ENST00000858933.1",
"protein_id": "ENSP00000528992.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 780,
"cds_start": 571,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858933.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Asp191His",
"transcript": "ENST00000858934.1",
"protein_id": "ENSP00000528993.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 780,
"cds_start": 571,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858934.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "NM_001007102.4",
"protein_id": "NP_001007103.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 755,
"cds_start": 496,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 4131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007102.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "NM_001346550.2",
"protein_id": "NP_001333479.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 755,
"cds_start": 496,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346550.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "NM_001346551.2",
"protein_id": "NP_001333480.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 755,
"cds_start": 496,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346551.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "ENST00000368139.6",
"protein_id": "ENSP00000357121.2",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 755,
"cds_start": 496,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 4148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368139.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "ENST00000526019.5",
"protein_id": "ENSP00000436706.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 755,
"cds_start": 496,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526019.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "ENST00000858924.1",
"protein_id": "ENSP00000528983.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 755,
"cds_start": 496,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858924.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "ENST00000858925.1",
"protein_id": "ENSP00000528984.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 755,
"cds_start": 496,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858925.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "ENST00000858927.1",
"protein_id": "ENSP00000528986.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 755,
"cds_start": 496,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 4249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858927.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "ENST00000858928.1",
"protein_id": "ENSP00000528987.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 755,
"cds_start": 496,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858928.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Asp166His",
"transcript": "ENST00000858932.1",
"protein_id": "ENSP00000528991.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 755,
"cds_start": 496,
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