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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: 14-75046550-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75046550&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75046550,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001040108.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "NM_001040108.2",
"protein_id": "NP_001035197.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355774.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040108.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "ENST00000355774.7",
"protein_id": "ENSP00000348020.2",
"transcript_support_level": 5,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040108.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355774.7"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "ENST00000380968.6",
"protein_id": "ENSP00000370355.3",
"transcript_support_level": 1,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380968.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "ENST00000930871.1",
"protein_id": "ENSP00000600930.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930871.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "ENST00000930872.1",
"protein_id": "ENSP00000600931.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930872.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "ENST00000930876.1",
"protein_id": "ENSP00000600935.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930876.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "ENST00000930875.1",
"protein_id": "ENSP00000600934.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930875.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "NM_014381.3",
"protein_id": "NP_055196.2",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014381.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "ENST00000971038.1",
"protein_id": "ENSP00000641097.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971038.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "ENST00000930870.1",
"protein_id": "ENSP00000600929.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1418,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930870.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "ENST00000930877.1",
"protein_id": "ENSP00000600936.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930877.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "ENST00000930874.1",
"protein_id": "ENSP00000600933.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930874.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "ENST00000930873.1",
"protein_id": "ENSP00000600932.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930873.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "ENST00000556257.5",
"protein_id": "ENSP00000451540.1",
"transcript_support_level": 5,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3106,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556257.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.274G>T",
"hgvs_p": "p.Glu92*",
"transcript": "ENST00000553713.5",
"protein_id": "ENSP00000451130.1",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 476,
"cds_start": 274,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553713.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "XM_006720116.5",
"protein_id": "XP_006720179.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720116.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "XM_017021219.3",
"protein_id": "XP_016876708.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021219.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "XM_005267532.6",
"protein_id": "XP_005267589.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1418,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267532.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "XM_024449538.2",
"protein_id": "XP_024305306.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1418,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449538.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "XM_005267533.6",
"protein_id": "XP_005267590.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267533.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "XM_047431265.1",
"protein_id": "XP_047287221.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3106,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431265.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3106G>T",
"hgvs_p": "p.Glu1036*",
"transcript": "XM_047431266.1",
"protein_id": "XP_047287222.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3106,
"cds_end": null,
"cds_length": 3894,
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}