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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: 3-27391797-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=27391797&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 27391797,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001321103.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3129G>C",
"hgvs_p": "p.Met1043Ile",
"transcript": "NM_001321103.2",
"protein_id": "NP_001308032.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3129,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 3387,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": "ENST00000454389.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3129G>C",
"hgvs_p": "p.Met1043Ile",
"transcript": "ENST00000454389.6",
"protein_id": "ENSP00000390394.1",
"transcript_support_level": 1,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3129,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 3387,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": "NM_001321103.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3090G>C",
"hgvs_p": "p.Met1030Ile",
"transcript": "ENST00000440156.5",
"protein_id": "ENSP00000414797.1",
"transcript_support_level": 1,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3090,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3311,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3102G>C",
"hgvs_p": "p.Met1034Ile",
"transcript": "ENST00000295736.9",
"protein_id": "ENSP00000295736.5",
"transcript_support_level": 1,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3102,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3173,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3090G>C",
"hgvs_p": "p.Met1030Ile",
"transcript": "ENST00000445684.5",
"protein_id": "ENSP00000406804.1",
"transcript_support_level": 1,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3090,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3360,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3078G>C",
"hgvs_p": "p.Met1026Ile",
"transcript": "ENST00000446700.5",
"protein_id": "ENSP00000406605.1",
"transcript_support_level": 1,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3078,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3299,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2745G>C",
"hgvs_p": "p.Met915Ile",
"transcript": "ENST00000455077.5",
"protein_id": "ENSP00000407382.1",
"transcript_support_level": 1,
"aa_start": 915,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2745,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2745G>C",
"hgvs_p": "p.Met915Ile",
"transcript": "ENST00000437179.5",
"protein_id": "ENSP00000394252.1",
"transcript_support_level": 1,
"aa_start": 915,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2745,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2730G>C",
"hgvs_p": "p.Met910Ile",
"transcript": "ENST00000428386.5",
"protein_id": "ENSP00000416368.1",
"transcript_support_level": 1,
"aa_start": 910,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2730,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 2801,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.1755G>C",
"hgvs_p": "p.Met585Ile",
"transcript": "ENST00000419036.5",
"protein_id": "ENSP00000411031.1",
"transcript_support_level": 1,
"aa_start": 585,
"aa_end": null,
"aa_length": 801,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 6447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1178G>C",
"hgvs_p": null,
"transcript": "ENST00000437266.5",
"protein_id": "ENSP00000409418.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1178G>C",
"hgvs_p": null,
"transcript": "ENST00000438530.5",
"protein_id": "ENSP00000407304.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1178G>C",
"hgvs_p": null,
"transcript": "ENST00000457377.5",
"protein_id": "ENSP00000408323.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1178G>C",
"hgvs_p": null,
"transcript": "ENST00000437266.5",
"protein_id": "ENSP00000409418.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1178G>C",
"hgvs_p": null,
"transcript": "ENST00000438530.5",
"protein_id": "ENSP00000407304.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1178G>C",
"hgvs_p": null,
"transcript": "ENST00000457377.5",
"protein_id": "ENSP00000408323.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3090G>C",
"hgvs_p": "p.Met1030Ile",
"transcript": "NM_001321104.2",
"protein_id": "NP_001308033.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3090,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3348,
"cdna_end": null,
"cdna_length": 8040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3102G>C",
"hgvs_p": "p.Met1034Ile",
"transcript": "NM_003615.5",
"protein_id": "NP_003606.3",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3102,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3197,
"cdna_end": null,
"cdna_length": 7781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3090G>C",
"hgvs_p": "p.Met1030Ile",
"transcript": "NM_001321105.2",
"protein_id": "NP_001308034.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3090,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3348,
"cdna_end": null,
"cdna_length": 7932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3078G>C",
"hgvs_p": "p.Met1026Ile",
"transcript": "NM_001321106.2",
"protein_id": "NP_001308035.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3078,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3336,
"cdna_end": null,
"cdna_length": 7920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2757G>C",
"hgvs_p": "p.Met919Ile",
"transcript": "NM_001321108.2",
"protein_id": "NP_001308037.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2757,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 7707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2745G>C",
"hgvs_p": "p.Met915Ile",
"transcript": "NM_001258379.2",
"protein_id": "NP_001245308.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2745,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 7695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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