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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: 17-81246221-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81246221&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81246221,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001037984.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2695G>T",
"hgvs_p": "p.Val899Leu",
"transcript": "NM_001037984.3",
"protein_id": "NP_001033073.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2695,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374759.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037984.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2695G>T",
"hgvs_p": "p.Val899Leu",
"transcript": "ENST00000374759.8",
"protein_id": "ENSP00000363891.3",
"transcript_support_level": 5,
"aa_start": 899,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2695,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001037984.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374759.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "n.771G>T",
"hgvs_p": null,
"transcript": "ENST00000539643.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000539643.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2866G>T",
"hgvs_p": "p.Val956Leu",
"transcript": "ENST00000947966.1",
"protein_id": "ENSP00000618025.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1176,
"cds_start": 2866,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947966.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2842G>T",
"hgvs_p": "p.Val948Leu",
"transcript": "ENST00000947971.1",
"protein_id": "ENSP00000618030.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2842,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947971.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2833G>T",
"hgvs_p": "p.Val945Leu",
"transcript": "ENST00000918313.1",
"protein_id": "ENSP00000588372.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918313.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2815G>T",
"hgvs_p": "p.Val939Leu",
"transcript": "ENST00000947968.1",
"protein_id": "ENSP00000618027.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2815,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947968.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2797G>T",
"hgvs_p": "p.Val933Leu",
"transcript": "ENST00000899482.1",
"protein_id": "ENSP00000569541.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2797,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899482.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2764G>T",
"hgvs_p": "p.Val922Leu",
"transcript": "ENST00000947963.1",
"protein_id": "ENSP00000618022.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2764,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947963.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2737G>T",
"hgvs_p": "p.Val913Leu",
"transcript": "ENST00000947967.1",
"protein_id": "ENSP00000618026.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2737,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947967.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2722G>T",
"hgvs_p": "p.Val908Leu",
"transcript": "ENST00000947959.1",
"protein_id": "ENSP00000618018.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2722,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947959.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2716G>T",
"hgvs_p": "p.Val906Leu",
"transcript": "ENST00000899487.1",
"protein_id": "ENSP00000569546.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2716,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899487.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2716G>T",
"hgvs_p": "p.Val906Leu",
"transcript": "ENST00000899490.1",
"protein_id": "ENSP00000569549.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2716,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899490.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2671G>T",
"hgvs_p": "p.Val891Leu",
"transcript": "ENST00000899495.1",
"protein_id": "ENSP00000569554.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1111,
"cds_start": 2671,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899495.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2659G>T",
"hgvs_p": "p.Val887Leu",
"transcript": "ENST00000899485.1",
"protein_id": "ENSP00000569544.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2659,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899485.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2599G>T",
"hgvs_p": "p.Val867Leu",
"transcript": "ENST00000947965.1",
"protein_id": "ENSP00000618024.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947965.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2578G>T",
"hgvs_p": "p.Val860Leu",
"transcript": "ENST00000899488.1",
"protein_id": "ENSP00000569547.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2578,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899488.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2575G>T",
"hgvs_p": "p.Val859Leu",
"transcript": "ENST00000899491.1",
"protein_id": "ENSP00000569550.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899491.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2533G>T",
"hgvs_p": "p.Val845Leu",
"transcript": "ENST00000947960.1",
"protein_id": "ENSP00000618019.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2533,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947960.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2512G>T",
"hgvs_p": "p.Val838Leu",
"transcript": "ENST00000947969.1",
"protein_id": "ENSP00000618028.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2512,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947969.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2497G>T",
"hgvs_p": "p.Val833Leu",
"transcript": "ENST00000947964.1",
"protein_id": "ENSP00000618023.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2497,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947964.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A10",
"gene_hgnc_id": 28237,
"hgvs_c": "c.2476G>T",
"hgvs_p": "p.Val826Leu",
"transcript": "ENST00000899483.1",
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],
"message": null
}