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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: 1-197645704-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197645704&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 197645704,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001195215.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "NM_001195215.2",
"protein_id": "NP_001182144.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 775,
"cds_start": 547,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000620048.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195215.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000620048.6",
"protein_id": "ENSP00000479816.1",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 775,
"cds_start": 547,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001195215.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620048.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000367396.7",
"protein_id": "ENSP00000356366.3",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 426,
"cds_start": 547,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367396.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.457A>G",
"hgvs_p": "p.Thr153Ala",
"transcript": "ENST00000235453.8",
"protein_id": "ENSP00000235453.4",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 396,
"cds_start": 457,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000235453.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Thr163Ala",
"transcript": "ENST00000887105.1",
"protein_id": "ENSP00000557164.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 755,
"cds_start": 487,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887105.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000887108.1",
"protein_id": "ENSP00000557167.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 733,
"cds_start": 547,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887108.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Thr163Ala",
"transcript": "ENST00000887111.1",
"protein_id": "ENSP00000557170.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 713,
"cds_start": 487,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887111.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "NM_144977.5",
"protein_id": "NP_659414.2",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 426,
"cds_start": 547,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144977.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.457A>G",
"hgvs_p": "p.Thr153Ala",
"transcript": "NM_001300858.2",
"protein_id": "NP_001287787.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 396,
"cds_start": 457,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300858.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.379A>G",
"hgvs_p": "p.Thr127Ala",
"transcript": "ENST00000422998.1",
"protein_id": "ENSP00000410025.1",
"transcript_support_level": 3,
"aa_start": 127,
"aa_end": null,
"aa_length": 146,
"cds_start": 379,
"cds_end": null,
"cds_length": 442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422998.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Thr231Ala",
"transcript": "XM_011509246.3",
"protein_id": "XP_011507548.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 823,
"cds_start": 691,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509246.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "XM_011509247.2",
"protein_id": "XP_011507549.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 803,
"cds_start": 631,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509247.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.586A>G",
"hgvs_p": "p.Thr196Ala",
"transcript": "XM_011509248.3",
"protein_id": "XP_011507550.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 788,
"cds_start": 586,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509248.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.517A>G",
"hgvs_p": "p.Thr173Ala",
"transcript": "XM_011509249.3",
"protein_id": "XP_011507551.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 765,
"cds_start": 517,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509249.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Thr163Ala",
"transcript": "XM_005244931.3",
"protein_id": "XP_005244988.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 755,
"cds_start": 487,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244931.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.457A>G",
"hgvs_p": "p.Thr153Ala",
"transcript": "XM_047447700.1",
"protein_id": "XP_047303656.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 745,
"cds_start": 457,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447700.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Thr231Ala",
"transcript": "XM_011509251.4",
"protein_id": "XP_011507553.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 447,
"cds_start": 691,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509251.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Thr211Ala",
"transcript": "XM_047447726.1",
"protein_id": "XP_047303682.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 427,
"cds_start": 631,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447726.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "XM_047447730.1",
"protein_id": "XP_047303686.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 399,
"cds_start": 547,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447730.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Thr163Ala",
"transcript": "XM_047447731.1",
"protein_id": "XP_047303687.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 379,
"cds_start": 487,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447731.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.-57A>G",
"hgvs_p": null,
"transcript": "XM_024453626.2",
"protein_id": "XP_024309394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": null,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453626.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1B",
"gene_hgnc_id": 28404,
"hgvs_c": "c.-57A>G",
"hgvs_p": null,
"transcript": "XM_047447711.1",
"protein_id": "XP_047303667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": null,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
],
"message": null
}